×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
20145306 2010
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
7649549 1995
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Molecular genetics of familial hypercholesterolemia in Israel.
8882879 1996
×
Entrez Id: 338
Gene Symbol: APOB
APOB
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
24234650 2014
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
11462246 2001
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
22353362 2012
×
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Clinical significance of measuring soluble LR11, a circulating marker of atherosclerosis and HbA1c in familial hypercholesterolemia.
24859021 2014
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
16159606 2005
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
27247956 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
27765764 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
23375686 2013
×
Entrez Id: 338
Gene Symbol: APOB
APOB
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
17964958 2007
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Array-based resequencing for mutations causing familial hypercholesterolemia.
21376320 2011
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
19446849 2009
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Genetic analysis of familial hypercholesterolaemia in Western Australia.
22883975 2012
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
25647241 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.
24627126 2014
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.
7903864 1994
×
Entrez Id: 338
Gene Symbol: APOB
APOB
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.
11494965 2001
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
28965616 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
25647241 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.
17087781 2006
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
15199436 2004
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
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.
9026534 1996
×
Entrez Id: 338
Gene Symbol: APOB
APOB
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
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.
8371062 1993