×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
GeneticVariation
disease
BEFREE
The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1 ) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene.
28733173
2018
×
Entrez Id:
27329
Gene Symbol:
ANGPTL3
ANGPTL3
0.010
GeneticVariation
disease
BEFREE
Compared with controls, prevalence and severity of hepatic steatosis were increased in heterozygous FHBL1 (P < .001), but unchanged in FHBL2 individuals.
28733173
2018
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
9702952
1998
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.
10388479
1999
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
16250003
2005
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
11238294
2001
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
21868016
2011
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.
9191540
1997
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
21059979
2010
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.
22855658
2012
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
18325181
2008
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
GeneticVariation
disease
CLINVAR
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
20032471
2010
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Array-based resequencing for mutations causing familial hypercholesterolemia.
21376320
2011
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
23936638
2013
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.
9105560
1997
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
27206935
2017
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
11115503
2001
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
22294733
2012
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.
15797858
2005
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
24234650
2014
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
22095935
2012
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
2563166
1989
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
7627691
1995
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
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
0.710
CausalMutation
disease
CLINVAR
Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).
18222178
2008