Gene: LDLR

Alternate names for this Gene: FH|FHC|FHCL1|LDLCQ2

Gene Summary: The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: low density lipoprotein receptor

Type of Gene: protein-coding

Gene: MIR6886

Alternate names for this Gene: hsa-mir-6886

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: microRNA 6886

Type of Gene: ncRNA

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.

rs113669610 in LDLR;MIR6886 gene and Hypercholesterolemia, Familial PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

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

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

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

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

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

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

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

PMID 9698020 1998 Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.

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

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

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

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

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

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

PMID 8535447 1995 Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.

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

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

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

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

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

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

PMID 15477777 2004 [Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].

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

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

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

PMID 21925660 2011 Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality.

PMID 21722902 2011 Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

PMID 11196104 2000 Mutations in the low-density-lipoprotein receptor gene in German patients with 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 2569482 1989 Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

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 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.

PMID 15256764 2004 Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

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

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

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

PMID 8478013 1993 Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.

PMID 7718024 1994 Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

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

PMID 12837857 2003 Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese.

PMID 10447263 1999 Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.

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

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

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

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 23815734 2013 Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

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

PMID 28104544 2017 Molecular genetics of familial hypercholesterolemia in Israel-revisited.

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

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

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

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

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

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

PMID 25682026 2015 Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

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

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

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

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

PMID 15823288 2005 The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

PMID 25936317 2015 Pregnancy in homozygous familial hypercholesterolemia--Importance of LDL-apheresis.

PMID 30586733 2019 Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction.

PMID 11737238 2001 Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.

PMID 11005141 2000 Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

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 11313767 2001 A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

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 11373616 2001 Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair.

PMID 15556093 2004 Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.

PMID 20144596 2010 Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.

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

PMID 8740918 1996 Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.

PMID 7573037 1995 Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

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

PMID 8831933 1996 Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

PMID 19837725 2010 Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

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

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

PMID 24722143 2014 Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

PMID 11317362 2001 LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.

PMID 9452095 1998 Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.

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

PMID 10668928 1999 Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene.

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

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

PMID 7866407 1994 FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.

PMID 23833242 2013 Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk.

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

PMID 8740919 1996 An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia.

PMID 22881376 2012 Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

PMID 24075752 2013 Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.

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

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

PMID 12417285 2002 Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

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 9684750 1998 Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor.

PMID 18325082 2008 Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

PMID 26723464 2016 Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort.

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

PMID 16314194 2006 Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.

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

PMID 3495735 1987 The solution structure of human epidermal growth factor.

PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

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

PMID 9452094 1998 Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.

PMID 26081744 2015 Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

PMID 15823276 2005 The molecular basis of familial hypercholesterolaemia in Turkish patients.

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 10660340 1998 Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.

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

PMID 15576851 2005 Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

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 12052488 2002 Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.

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

PMID 18243212 2008 Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.

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

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

PMID 16211558 2005 Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

PMID 22311046 2012 Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

PMID 14570618 2003 Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia.

PMID 19073363 2009 Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.

PMID 8225312 1993 Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia.

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 15701167 2005 Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

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 28458923 2017 Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

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

PMID 7718023 1994 Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

PMID 24373485 2013 Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

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 9544745 1998 Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group.

PMID 8678915 1996 Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).

PMID 25807990 2015 Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.

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

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 11257256 2001 Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.

rs121908036 in LDLR;MIR6886 gene and Hyperlipoproteinemia Type IIa PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.

PMID 24636176 2014 Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

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 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 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

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

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 25404096 2015 Recommendations for the management of patients with familial hypercholesterolemia.

PMID 7550239 1995 Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 22364837 2012 INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.

PMID 23725921 2013 Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.

PMID 25053660 2014 Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

PMID 21600525 2011 Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

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

PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

PMID 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

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

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 24418289 2014 Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

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

PMID 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

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

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

PMID 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

PMID 15177124 2004 Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

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

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

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

rs11669576 in LDLR;MIR6886 gene and Low density lipoprotein cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.