|
rs5742904
|
|
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
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
|
24234650 |
2014 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
|
24987033 |
2014 |
|
rs5742904
|
|
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
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation detection in Croatian patients with familial hypercholesterolemia.
|
23130880 |
2013 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
|
23054246 |
2012 |
|
rs5742904
|
|
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
|
|
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
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain.
|
22244043 |
2012 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic analysis of familial hypercholesterolaemia in Western Australia.
|
22883975 |
2012 |
|
rs5742904
|
|
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
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
|
21657943 |
2011 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
|
20809525 |
2010 |
|
rs5742904
|
|
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
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
rs5742904
|
|
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
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
|
18028451 |
2008 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.
|
18096825 |
2008 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
|
rs5742904
|
|
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
|
|
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
|
|
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 |
|
rs5742904
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.
|
11494965 |
2001 |