×
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:
338
Gene Symbol:
APOB
APOB
0.710
GeneticVariation
disease
UNIPROT
Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
27206948
2017
×
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
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
Biomarker
disease
GENOMICS_ENGLAND
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
25414277
2015
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
26415676
2015
×
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
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
24507775
2014
×
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
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
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.
22855658
2012
×
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
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
GeneticVariation
disease
UNIPROT
A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.
21981844
2012
×
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
Array-based resequencing for mutations causing familial hypercholesterolemia.
21376320
2011
×
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
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
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
CausalMutation
disease
CLINVAR
Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).
18222178
2008
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
0.710
CausalMutation
disease
CLINVAR
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
17570373
2007
×
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
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
GeneticVariation
disease
UNIPROT
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
12551903
2003
×
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