×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
28145427 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
27680772 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
26036859 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
27050191 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
25378237 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.
24249837 2014
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
23375686 2013
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
23375686 2013
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
22698793 2012
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Genetic analysis of familial hypercholesterolaemia in Western Australia.
22883975 2012
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Array-based resequencing for mutations causing familial hypercholesterolemia.
21376320 2011
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.
21146822 2011
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
20538126 2010
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
20663204 2010
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Update of the Portuguese Familial Hypercholesterolaemia Study.
20828696 2010
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
20236128 2010
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.
19538517 2009
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
19446849 2009
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
17539906 2007
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
16542394 2006
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
15241806 2004
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
14974088 2004
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
15359125 2004
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
15556094 2004
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
15241806 2004