rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
26036859
2016
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
25461735
2015
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
24234650
2014
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
24987033
2014
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
24507774
2014
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Mutation detection in Croatian patients with familial hypercholesterolemia.
23130880
2013
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
22698793
2012
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Genetic analysis of familial hypercholesterolaemia in Western Australia.
22883975
2012
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
23064986
2012
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Molecular characterization of familial hypercholesterolemia in Spain.
22244043
2012
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
23054246
2012
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
21310417
2011
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
21657943
2011
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
20145306
2010
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
20809525
2010
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
20236128
2010
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
18700895
2008
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Familial hypercholesterolaemia in Portugal.
17765246
2008
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.
18096825
2008
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
18028451
2008
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
17539906
2007
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
17142622
2006
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
11115503
2001
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.
11137107
2001
rs5742904
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Familial hypercholesterolemia - homozygous
T
0.700
CausalMutation
CLINVAR
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.
11781700
2001