Xcode Life

Condition: Hepatolenticular Degeneration

rs1021025464 in ALG11;ATP7B gene and Hepatolenticular Degeneration

PMID 24878384 2014 New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.

PMID 30087448 2018 An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

PMID 24094725 2014 Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

PMID 26752957 2016 Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.

PMID 14616767 2003 Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

PMID 10502776 1999 Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

rs1038582488 in ATP7B gene and Hepatolenticular Degeneration

PMID 8938442 1996 Efficient detection of mutations in Wilson disease by manifold sequencing.

PMID 25982861 2015 Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 24146181 2013 Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children.

PMID 24706876 2014 Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

PMID 26483271 2016 Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.

PMID 25089800 2014 Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.

PMID 17949296 2007 Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

PMID 22763723 2012 Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

PMID 23235335 2013 Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

PMID 10502776 1999 Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

PMID 10447265 1999 Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.

PMID 18034201 2008 Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

PMID 21796144 2011 Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

PMID 18506894 2008 Diagnosis and treatment of Wilson disease: an update.

PMID 24555712 2014 Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.

PMID 12325021 2002 Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

PMID 10544227 1999 Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

PMID 23159873 2013 A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.

PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.

PMID 11043508 2000 Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.

PMID 21219664 2011 Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

PMID 22075048 2012 New novel mutation of the ATP7B gene in a family with Wilson disease.

PMID 8533760 1995 Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

PMID 15967699 2006 Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

PMID 9482578 1998 Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

PMID 23518715 2013 A genetic study of Wilson's disease in the United Kingdom.

PMID 9452121 1998 Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

PMID 17919502 2007 Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

PMID 23567103 2013 Wilson disease in offspring of affected patients: report of four French families.

PMID 22687675 2011 Behavioural and psychiatric disorders in paediatric Wilson's disease.

PMID 22677543 2012 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 14986826 2003 Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

PMID 16133174 2005 Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

PMID 24094725 2014 Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

PMID 11405812 2001 Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

PMID 16088907 2005 Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.

PMID 20931554 2010 Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.

PMID 17300695 2007 Clinical and molecular characterization of Wilson disease in Spanish patients.

PMID 24720933 2016 [Complexity of the diagnosis of Wilson disease in clinical practice: our experience in 15 patients].

PMID 22692182 2012 A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

PMID 17264425 2007 ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.

PMID 27122662 2016 Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.

PMID 23551039 2013 Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

PMID 27022412 2016 Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

PMID 15524314 2004 Identification of three novel insertion/deletion mutations in Wilson disease's gene.

PMID 21454443 2011 Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.

PMID 18483695 2008 Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

PMID 18371106 2008 Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

PMID 17272994 2007 Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.

PMID 22484412 2012 Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

PMID 23430908 2012 Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.

PMID 12557139 2003 Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.

PMID 11690702 2001 High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.

PMID 24253677 2014 In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

PMID 22240481 2012 Diverse functional properties of Wilson disease ATP7B variants.

PMID 17317524 2007 Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.

PMID 21645214 2011 Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

PMID 22093921 2012 Successful liver transplantation following veno-arterial extracorporeal membrane oxygenation in a child with fulminant Wilson disease and severe pulmonary hemorrhage: a case report.

PMID 10502777 1999 A study of Wilson disease mutations in Britain.

PMID 9671269 1998 Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

PMID 26752957 2016 Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.

PMID 12202071 2002 Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography.

PMID 12544487 2003 Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).

PMID 27398169 2016 Phenotype/genotype correlation analysis suggested that the patients with c.2975C>T or c.3809A>G often presented WD features before 12 years old while the patients with c.3443T>C almost presented WD after 12 years old.

PMID 26269689 2015 Wilson disease with hepatic presentation in an eight-month-old boy.

PMID 9311736 1997 Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

PMID 8298641 1993 The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

PMID 10790207 2000 Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

PMID 9654149 1998 Wild type and the H1069Q mutant could rescue delta ccc2, however, the N1270S mutant could not, reflecting phenotypic variability of Wilson disease.

PMID 17587212 2007 Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

PMID 19419418 2009 Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

PMID 7626145 1995 The Wilson disease gene: spectrum of mutations and their consequences.

PMID 20485189 2010 Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.

PMID 9829905 1998 Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

PMID 21610751 2011 Clinical presentation and mutations in Danish patients with Wilson disease.

PMID 11243728 2001 Molecular diagnosis of Wilson disease.

PMID 20082719 2010 Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

PMID 26032686 2015 Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.

PMID 10453196 1999 Molecular analysis and diagnosis in Japanese patients with Wilson's disease.

PMID 25704634 2015 Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.

PMID 17680703 2007 Sequence variation database for the Wilson disease copper transporter, ATP7B.

PMID 16998622 2006 Compound overload of copper and iron in patients with Wilson's disease.

PMID 12376745 2002 Two families with Wilson disease in which siblings showed different phenotypes.

PMID 23219664 2013 Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.

PMID 22940187 2012 Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease.

PMID 23275100 2013 Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

PMID 20517649 2010 Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

PMID 23333878 2013 Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

PMID 22735241 2012 Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.

PMID 21707886 2011 Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.

PMID 10721669 2000 Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

PMID 18156766 2006 Molecular genetic analysis of ATP7B gene demonstrated that she was homozygous for Ala-874Val mutation, one of the three common mutations in Korean patients with WD.

PMID 11775208 2000 Identification and analysis of mutations of the Wilson disease gene in Chinese population.

PMID 12544487 2003 Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).

PMID 27398169 2016 Mutational analysis of ATP7B in Chinese Wilson disease patients.

PMID 15523622 2004 Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

PMID 9801873 1999 Haplotype and mutation analysis in Greek patients with Wilson disease.

PMID 16791614 2006 Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

PMID 21956287 2011 Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

PMID 15557537 2004 Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.

PMID 19118915 2009 Genotype-phenotype correlation in Italian children with Wilson's disease.

PMID 21832955 2012 Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.

PMID 11093740 2000 High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

PMID 15952988 2005 Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

PMID 15024742 2004 Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

PMID 23962630 2014 Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51+4A→T).

PMID 15845031 2005 Wilson disease: high prevalence in a mountainous area of Crete.

PMID 11093740 2000 In these patients, who constitute one of the largest described cohorts of WD homozygotes, we found a variable clinical presentation of the disease, although the biochemical picture was homogenous and characteristic, thereby confirming that the Leu708Pro change is indeed a mutation associated with WD.

PMID 23982005 2013 Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.

PMID 17718866 2007 Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.

PMID 24668339 2014 "MR image mimicking the ""eye of the tiger"" sign in Wilson's disease."

PMID 16283883 2005 Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

PMID 19371217 2009 RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.

PMID 12544487 2003 Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).

PMID 20421574 2010 Teaching NeuroImages: MRI reversal in Wilson disease with trientine treatment.

PMID 18203200 2008 Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

PMID 11954751 2002 Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.

PMID 26466587 2016 Pseudo-dominant inheritance in Wilson's disease.

PMID 27935710 2017 Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

PMID 30097039 2018 High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

PMID 22087377 2011 A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.

PMID 11060541 2000 Severe hepatic Wilson's disease in preschool-aged children.

PMID 21034864 2011 Six novel ATP7B mutations in Thai patients with Wilson disease.

PMID 23843956 2013 Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.

PMID 9887381 1999 His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

PMID 23789284 2013 Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.

PMID 18855987 2008 High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.

PMID 25497208 2015 Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

PMID 8298640 1993 Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

PMID 17897870 2008 Neurological manifestations and ATP7B mutations in Wilson's disease.

PMID 16207219 2005 Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

PMID 10994503 2000 [Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir].

PMID 21682854 2011 Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

PMID 20958917 2011 Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.

PMID 17160357 2007 No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients.

PMID 17154398 2007 Revised King's College score for liver transplantation in adult patients with Wilson's disease.

PMID 19937698 2009 Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

PMID 11479773 2001 Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease.

PMID 11216666 2000 Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

PMID 17433323 2007 Late-onset Wilson's disease.

PMID 11857545 2002 Common mutations of ATP7B in Wilson disease patients from Hungary.

PMID 10406672 1999 Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.

PMID 16233999 2005 Wilson's Disease.

PMID 19596473 2009 Hepatocyte GP73 expression in Wilson disease.

PMID 16603785 2006 Wilson's disease: a patient undiagnosed for 18 years.

PMID 12885331 2003 Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.

PMID 26819605 2016 Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

PMID 26799313 2016 ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

PMID 25390358 2014 Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

PMID 9199563 1997 Haplotype and mutation analysis in Japanese patients with Wilson disease.

PMID 24897373 2014 Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

PMID 9554743 1998 Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

PMID 8931691 1996 Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.

PMID 16423615 2006 Direct diagnosis of Wilson disease by molecular genetics.

PMID 23486543 2013 The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

PMID 25982861 2015 Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients.

PMID 20333758 2010 Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

PMID 23556051 2013 Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.

PMID 11721763 2001 Iron accumulation in the liver of male patients with Wilson's disease.

PMID 21982967 2012 Honeycomb appearance of the liver in Wilson's disease.

PMID 25046119 2015 CHIPS for genetic testing to improve a regional clinical genetic service.

PMID 20453399 2010 Current state of Wilson disease patients in central Japan.

PMID 18373411 2008 New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

PMID 9654149 1998 Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.

PMID 16998287 2006 [Wilson disease: an update].

PMID 25130000 2014 Biochemical staging of the chronic hepatic lesions of Wilson disease.

PMID 22170460 2012 Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

PMID 27982432 2017 Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.

PMID 23389864 2013 Neurological Wilson's disease lethal for the son, asymptomatic in the father.

PMID 26782526 2015 Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.

PMID 20491539 2010 High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.

PMID 29649982 2018 Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

PMID 30254379 2019 The global prevalence of Wilson disease from next-generation sequencing data.

PMID 9837819 1998 Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

PMID 10942420 2000 Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

PMID 24661374 2014 Zinc monotherapy is effective in Wilson's disease patients with mild liver disease diagnosed in childhood: a retrospective study.

PMID 15147237 2004 Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.

PMID 16495228 2006 Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.

PMID 11472373 2001 Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.

PMID 22308153 2011 Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.

PMID 21334398 2011 Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease.

PMID 17717039 2007 Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

PMID 16649058 2006 Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.

PMID 16696937 2006 Mutation analysis of Taiwanese Wilson disease patients.

PMID 16684691 2006 Three mutations, Q1256R, A1003T and I1102T, were characterized in WD patients, using SSCP and DNA sequencing.

PMID 12885331 2003 The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).

PMID 2679931 1989 Recombinant subunit vaccines from yeast.

PMID 15811015 2005 Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

PMID 25390358 2014 We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state.

PMID 19033537 2009 Furthermore, N41S, which is part of the signal we identified, is the first and only Wilson disease-causing missense mutation in residues 1-63 of ATP7B.

PMID 26829729 2016 [Mutation analysis of 35 Wilson's disease pedigrees].

PMID 8782057 1996 High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

PMID 25988284 2016 She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11.

PMID 25086856 2014 Identification and characterization of a novel splice-site mutation in the Wilson disease gene.

PMID 24878384 2014 Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis.

PMID 12544487 2003 Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).

PMID 17587212 2007 Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%.

PMID 10942420 2000 WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.

PMID 18652531 2008 Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.

PMID 19783880 2009 The arche haplotype of the ATP7B gene in Korean patients with WD may be 5-R778L-4 (D13S315.mutation.D13S316), and it might illustrate a founder effect.

PMID 17160357 2007 The H1069Q, R778W and R778L mutations were absent in these WD patients.

PMID 11405812 2001 The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.

PMID 16868807 2006 The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.

PMID 27930511 2016 Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.

PMID 18728530 2008 High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.

PMID 14761325 2003 [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

PMID 28212618 2017 Clinical features and outcome in patients with osseomuscular type of Wilson's disease.

PMID 30232804 2019 Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.

PMID 10441329 1999 Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.

PMID 21398519 2011 Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.

PMID 16175588 2005 Wilson Disease--keeping the bar for diagnosis raised.

PMID 15205462 2004 The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.

PMID 15723329 2005 Wilson disease in septuagenarian siblings: Raising the bar for diagnosis.

PMID 25376582 2015 Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

PMID 15571607 2004 The other mutation is found: follow-up of an exceptional family with Wilson disease.

PMID 24932333 2014 [Nodular hepatic tuberculosis: unusual complication during Wilson's disease].

PMID 14966923 2004 Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

PMID 24475083 2014 Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.

PMID 26650869 2017 A special case of recurrent gross hematuria: Answers.

PMID 29321352 2017 Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.

PMID 17160357 2007 No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients.

PMID 17823867 2007 Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

PMID 10981891 2000 Oxidative-phosphorylation defects in liver of patients with Wilson's disease.

PMID 24003324 2013 Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.

PMID 15337266 2004 New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson's disease in three unrelated Colombian kindred.

PMID 27992490 2016 Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.

PMID 23551039 2013 Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

PMID 18403153 2008 Long-term results of liver transplantation for Wilson's disease.

PMID 27398169 2016 Phenotype/genotype correlation analysis suggested that the patients with c.2975C>T or c.3809A>G often presented WD features before 12 years old while the patients with c.3443T>C almost presented WD after 12 years old.

PMID 22774841 2012 Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family.

PMID 8203200 1994 Strial dysfunction in a melanocyte deficient mutant rat (Ws/Ws rat).

PMID 15205742 2004 Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.

PMID 25982861 2015 Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients.

PMID 18855987 2008 Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations.

PMID 24476933 2014 A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.

PMID 23607698 2013 EGFP tags affect cellular localization of ATP7B mutants.

PMID 22019423 2012 Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.

PMID 2409472 1985 Complications of use of the neodymium: yttrium-aluminum-garnet laser in neurosurgery.

PMID 12885331 2003 The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).

PMID 18286826 2007 Ethnic specific background of mutations in Bulgarian patients with Wilson disease.

PMID 16510432 2006 Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.

PMID 10980554 2000 Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene.

PMID 12515040 2002 [Molecular analysis of Wilson disease].

PMID 10070620 1999 Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

PMID 20967755 2010 Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.

PMID 24517292 2014 Phenotype-genotype correlations in patients with Wilson's disease.

PMID 24718822 2014 Wilson disease in the South chinese han population.

PMID 9887381 1999 The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation.

PMID 9352458 1997 Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.

PMID 24909901 2014 Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.

PMID 9724794 1998 Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

PMID 18311837 2008 Late onset Wilson's disease: therapeutic implications.

PMID 22286624 2011 Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.

PMID 22221592 2012 In women, APOE ε4-positive genotype is associated with earlier onset of WD symptoms, particularly among ATP7B p.H1069Q homozygous patients.

PMID 10051024 1999 The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.

PMID 11690702 2001 Thirty-two (39%) Wilson disease patients were homozygous and 39 (48%) heterozygous for the H1069Q mutation (allele frequency 63%).

PMID 11857545 2002 The H1069Q point mutation is frequent in Hungarian patients with WD and appears to have originated from a single founder in Eastern Europe.

PMID 22720308 2012 Among asymptomatic first degree relatives of patients with WD (12 siblings, 25 parents) there were 40.5% cases heterozygous for H1069Q.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 25516681 2014 In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content.

PMID 17634212 2007 Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

PMID 22720273 2012 Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.

PMID 24118554 2014 Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease.

PMID 25704483 2015 Laser ablation inductively coupled plasma mass spectrometry imaging of metals in experimental and clinical Wilson's disease.

PMID 27437191 2016 The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria.

PMID 8526905 1995 A novel RNA splicing mutation in Japanese patients with Wilson disease.

PMID 20042865 2010 Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine.

PMID 17876883 2007 Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.

PMID 8298639 1993 The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

PMID 7726170 1995 Wilson disease in Iceland: a clinical and genetic study.

PMID 19172127 2009 Wilson disease in children: analysis of 57 cases.

PMID 16234011 2005 Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease.

PMID 8980283 1997 A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.

PMID 16567646 2006 Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations.

PMID 22046264 2011 Elucidation of the ATP7B N-domain Mg2+-ATP coordination site and its allosteric regulation.

PMID 24010089 2012 Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

PMID 23885147 2013 Gastrointestinal side effects in children with Wilson's disease treated with zinc sulphate.

PMID 14962673 2004 Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.

PMID 17949296 2007 A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy.

rs369488210 in ATP7B;ALG11 gene and Hepatolenticular Degeneration

PMID 15024742 2004 Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

PMID 19118915 2009 Genotype-phenotype correlation in Italian children with Wilson's disease.

PMID 19371217 2009 RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.

PMID 23982005 2013 Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.

PMID 25497208 2015 Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

PMID 20967755 2010 Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.

PMID 22677543 2012 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

PMID 23518715 2013 A genetic study of Wilson's disease in the United Kingdom.

PMID 23962630 2014 Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

PMID 15967699 2006 Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

PMID 29649982 2018 Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

PMID 26752957 2016 Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.

PMID 23486543 2013 The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

PMID 18371106 2008 Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

PMID 10502776 1999 Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.