×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Mutation detection in Chinese patients with familial hypercholesterolemia.
28028493
2016
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.
9544850
1998
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
7649546
1995
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
18325082
2008
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality.
21925660
2011
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
9259195
1997
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
21990180
2012
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.
3924410
1985
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
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.
16389549
2006
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.
19073363
2009
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
The solution structure of human epidermal growth factor.
3495735
1987
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
19208450
2009
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
[Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].
12485531
2002
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
24956927
2014
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia.
15890894
2005
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
11668627
2001
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
9974426
1999
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia.
10924730
2000
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines.
24163242
2014
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Molecular modeling of D151Y and M391T mutations in the LDL receptor.
18929537
2008
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
15200491
2004
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
7635461
1995
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
22353362
2012
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.
11737238
2001
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
25647241
2015