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

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

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.

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

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 28126585 2017 Homozygous familial hypercholesterolemia: Summarized case reports.

PMID 24507775 2014 Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

PMID 28145427 2017 Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

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

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

PMID 12124988 2002 The UMD-LDLR database: additions to the software and 490 new entries to the database.

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

PMID 24627126 2014 Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.

PMID 19411563 2009 Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

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

PMID 25378237 2015 Functional characterization and classification of frequent low-density lipoprotein receptor variants.

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

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

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

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

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

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

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

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

PMID 17196209 2008 Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

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

rs121908038 in MIR6886;LDLR gene and Hypercholesterolemia, Familial PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

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

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 8882879 1996 Molecular genetics of familial hypercholesterolemia in Israel.

PMID 26343872 2015 Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

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

PMID 18400033 2008 Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

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

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

PMID 21157333 2011 Altered mRNA splicing in lipoprotein disorders.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 25911074 2016 Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

PMID 17335829 2007 A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

PMID 19371225 2009 Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

PMID 25846081 2015 Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

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

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 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

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

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

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

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

PMID 9254862 1997 Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.

PMID 25154303 2014 Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.

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

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

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

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

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 28126585 2017 Homozygous familial hypercholesterolemia: Summarized case reports.

PMID 27206935 2017 Genetic diagnosis of familial hypercholesterolemia in Han Chinese.

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

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

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

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

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

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

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

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

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 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

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

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

PMID 17196209 2008 Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

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

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

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

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

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

PMID 12124988 2002 The UMD-LDLR database: additions to the software and 490 new entries to the database.

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

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

PMID 7833932 1994 Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.

PMID 19411563 2009 Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

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

PMID 25378237 2015 Functional characterization and classification of frequent low-density lipoprotein receptor variants.

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

PMID 20045108 2010 Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

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

PMID 17426749 2006 Genetic susceptibility to heart disease in Canada: lessons from patients with 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 14508510 2003 Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.

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

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations 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 25962062 2015 Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

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

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

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

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

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

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

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

PMID 25014035 2014 Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

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

PMID 16806138 2006 Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

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 26632531 2016 Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.

PMID 24163242 2014 Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines.

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

PMID 26077743 2015 Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.

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

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

PMID 19118540 2009 Evaluation of high-resolution melting analysis for screening the LDL receptor gene.

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

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

PMID 11435110 2001 Solution structure of the LDL receptor EGF-AB pair: a paradigm for the assembly of tandem calcium binding EGF domains.

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

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 1310940 1992 A comparative study on the catalytic properties of guanyl-specific ribonucleases.

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

PMID 16627557 2006 Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

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

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

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

PMID 8314561 1993 Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.

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

PMID 9889019 1998 Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

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

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

PMID 16465405 2006 Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.

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

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 8103503 1993 Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.

PMID 11472756 2001 A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect.

PMID 10782930 2000 Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.

PMID 10487495 1999 Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].

PMID 7548065 1995 Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain.

PMID 7603991 1995 Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.

PMID 7979249 1994 Structures and functions of multiligand lipoprotein receptors: macrophage scavenger receptors and LDL receptor-related protein (LRP).

PMID 11916007 2002 Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

PMID 8005585 1994 A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region.

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 9195230 1997 Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.

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

PMID 11600564 2001 Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.

PMID 9225977 1997 A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

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

PMID 8697568 1996 High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

PMID 9237502 1997 CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.

PMID 11194027 2000 Mutation analysis of exon 9 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia.

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

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

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

PMID 16092059 2005 Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

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

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 10980548 2000 Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

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

PMID 8872473 1996 Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.

PMID 9039985 1997 Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

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

rs121908043 in MIR6886;LDLR gene and Hyperlipoproteinemia Type IIa PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing 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 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

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

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

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 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 28145427 2017 Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

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

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

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

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

PMID 25378237 2015 Functional characterization and classification of frequent low-density lipoprotein receptor variants.

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 27050191 2016 Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

rs5930 in MIR6886;LDLR gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs5930 in MIR6886;LDLR gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs5930 in MIR6886;LDLR gene and Serum total cholesterol measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.