Xcode Life

Condition: Familial hypercholesterolemia - homozygous

rs144467873 in APOB gene and Familial hypercholesterolemia - homozygous

PMID 10529757 1999 LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are.

PMID 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 9191540 1997 Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

PMID 17964958 2007 LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

PMID 11833852 2001 Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.

PMID 10388479 1999 Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.

PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

PMID 22408029 2012 Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.

PMID 24987033 2014 Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

PMID 8831935 1996 Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia.

PMID 11781700 2001 Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 18096825 2008 Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.

PMID 10208479 1999 The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

PMID 8254047 1993 "Accumulation of ""small dense"" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor."

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 23130880 2013 Mutation detection in Croatian patients with familial hypercholesterolemia.

PMID 11494965 2001 High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PMID 1977310 1990 Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

PMID 25461735 2015 Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

PMID 1466657 1992 Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.

PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 18700895 2008 Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

PMID 1793440 1991 Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.

PMID 1360085 1992 Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.

PMID 8318993 1993 Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.

PMID 11137107 2001 Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.

PMID 21657943 2011 Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.

PMID 22244043 2012 Molecular characterization of familial hypercholesterolemia in Spain.

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 18028451 2008 Genetic heterogeneity of autosomal dominant hypercholesterolemia.

PMID 23054246 2012 Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

PMID 9339363 1997 Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100.

PMID 9654205 1998 LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.

PMID 23064986 2012 Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

PMID 8371062 1993 A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

PMID 24234650 2014 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

PMID 8723684 1996 Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.

rs112029328 in LDLR gene and Familial hypercholesterolemia - homozygous

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 10441197 1999 Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

PMID 7749829 1995 Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH.

PMID 7718019 1994 Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

PMID 21935675 2011 New contributions to the study of common double mutants in the human LDL receptor gene.

PMID 19361455 2009 Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

PMID 24281370 2014 Genealogical analysis as a new approach for the investigation of drug intolerance heritability.

PMID 15523646 2004 LDL-receptor mutations in Europe.

PMID 8645371 1996 The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.

PMID 8098448 1993 Because FH is caused by mutations at the low-density-lipoprotein-gene locus, we compared plasma-cholesterol concentrations in 21 FH homozygotes with either the greater than 10 kb deletion (promoter region and exon 1) (11 subjects) or the exon 3 missense (trp66-->gly) mutation (10 subjects) of the low-density-lipoprotein gene.

PMID 8054972 1994 Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia.

PMID 23669246 2013 Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

PMID 15528480 2005 Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations.

PMID 2318961 1990 Common low-density lipoprotein receptor mutations in the French Canadian population.

PMID 9272705 1997 Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec.

PMID 25461735 2015 Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

PMID 2760205 1989 Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

PMID 11754108 2002 Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

PMID 8096412 1993 Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 18263977 2008 Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

PMID 25647241 2015 Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 26892515 2016 The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 2569482 1989 Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

PMID 17087781 2006 Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.

PMID 2352257 1990 An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

PMID 8093663 1993 Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

PMID 3202825 1988 Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 8399083 1993 Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.

PMID 9664576 1998 Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.

PMID 23680767 2013 The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

PMID 28028493 2016 Mutation detection in Chinese patients with familial hypercholesterolemia.

PMID 28008010 2016 Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

PMID 22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 25962062 2015 Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

PMID 19148831 2009 Nonsense-mediated decay of human LDL receptor mRNA.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 21475731 2011 Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

PMID 15359125 2004 Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

PMID 16183066 2006 Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.

PMID 12406975 2002 Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.

PMID 12436241 2002 Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

PMID 25487149 2015 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

PMID 4061492 1985 Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 2088165 1990 The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

PMID 21418584 2011 Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

PMID 28391882 2017 Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

PMID 21145767 2011 Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

PMID 27247956 2016 Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

PMID 28502510 2018 Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

PMID 3025214 1987 The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

PMID 19319977 2009 The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

PMID 10559517 1999 Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia.

PMID 11668627 2001 Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

PMID 9678702 1998 Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

PMID 27680772 2016 Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

PMID 10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

PMID 9767373 1998 Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.

PMID 16542394 2006 Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

PMID 16159606 2005 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.

PMID 16389549 2006 Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 21865347 2011 An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

PMID 21925044 2011 Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

PMID 11317361 2001 Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.

PMID 20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

PMID 9654205 1998 LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 26020417 2016 Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

PMID 11196104 2000 Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.

PMID 10657581 2000 Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country.

PMID 20663204 2010 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

PMID 1352322 1992 Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 11668640 2001 Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 1301940 1992 Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

PMID 15241806 2004 Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

PMID 18718593 2009 Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.

PMID 28379029 2017 Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.

PMID 28169869 2017 Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 19007590 2008 Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

PMID 25545329 2015 Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

PMID 16205024 2005 Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

PMID 15556094 2004 Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

PMID 27784735 2016 Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

PMID 21642693 2011 Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

PMID 27765764 2016 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

PMID 7489239 1995 Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.

PMID 10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

PMID 11851376 2001 Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.

PMID 25412742 2015 Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.

PMID 20506408 2010 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

PMID 1830890 1991 Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.

PMID 2920733 1989 Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject.

PMID 2726768 1989 Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PMID 1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

PMID 26927322 2016 Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 11857755 2002 Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

PMID 21990180 2012 Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 27816806 2016 Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

PMID 14974088 2004 Molecular characterization of familial hypercholesterolemia in German and Greek patients.

PMID 10422804 1999 Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

PMID 9712531 1998 Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

PMID 28964736 2018 Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia.

PMID 24014831 2013 Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia.

PMID 11040093 2000 Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

PMID 15100232 2004 Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair.

PMID 19446849 2009 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

PMID 27824480 2017 The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

PMID 8882879 1996 Molecular genetics of familial hypercholesterolemia in Israel.

PMID 18096825 2008 Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.

PMID 11933210 2002 Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

PMID 23155708 2012 Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.

PMID 7903864 1994 Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

PMID 29233637 2019 Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.

PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

PMID 19538517 2009 Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 28235710 2017 The genetic spectrum of familial hypercholesterolemia in the central south region of China.

PMID 7649549 1995 Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

PMID 9763532 1998 Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

PMID 19026292 2008 Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

PMID 7616128 1995 Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

PMID 10208479 1999 The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 25463123 2014 Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

PMID 11052664 2000 Evidence that familial hypercholesterolemia mutations of the LDL receptor cause limited local misfolding in an LDL-A module pair.

PMID 10704205 2000 Solution structure of the sixth LDL-A module of the LDL receptor.

PMID 24956927 2014 Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

PMID 22095935 2012 Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

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

PMID 9974426 1999 Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.

PMID 10978268 2000 Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

PMID 12730724 2003 Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

PMID 25921077 2015 Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.

PMID 9026534 1996 Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.

PMID 27542166 2016 Genetic testing of familial hypercholesterolemia in a real clinical setting.

PMID 17094996 2007 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

PMID 10532689 1999 Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

PMID 10090473 1999 Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.

PMID 19208450 2009 Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.

PMID 7635461 1995 An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.

PMID 28965616 2017 Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

PMID 15200491 2004 FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.

PMID 23510778 2013 A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.

rs137943601 in LDLR;MIR6886 gene and Familial hypercholesterolemia - homozygous

PMID 21531209 2011 The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.

PMID 25487149 2015 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

PMID 18503695 2008 Low-density lipoprotein apheresis in children with familial hypercholesterolemia: follow-up to 21 years.

PMID 14974088 2004 Molecular characterization of familial hypercholesterolemia in German and Greek patients.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 19843101 2010 Mutation screening in patients for familial hypercholesterolaemia (ADH).

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 21865347 2011 An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

PMID 2088165 1990 The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

PMID 27765764 2016 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

PMID 27784735 2016 Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

PMID 28965616 2017 Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 16389549 2006 Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

PMID 11139254 2001 Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

PMID 11196104 2000 Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.

PMID 22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 9727746 1998 Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.

rs139617694 in MIR6886;LDLR gene and Familial hypercholesterolemia - homozygous

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

PMID 10441197 1999 Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

PMID 11668640 2001 Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

PMID 19208450 2009 Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 7616128 1995 Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

PMID 10090473 1999 Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

PMID 9763532 1998 Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

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