Condition: Hyperlipoproteinemia Type IIb
rs1215189537 in
APOB gene and
Hyperlipoproteinemia Type IIb
PMID 22855658 2012 Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.
PMID 17570373 2007 Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
PMID 10388479 1999 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.
PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.
PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
PMID 26415676 2015 Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
PMID 21862702 2011 Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
PMID 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
PMID 24234650 2014 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
PMID 27206935 2017 Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
PMID 9191540 1997 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.
PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
PMID 23936638 2013 Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
PMID 20032471 2010 Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
PMID 22095935 2012 Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
PMID 24507775 2014 Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
PMID 8468533 1993 Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.
PMID 21059979 2010 Additional genotyping revealed the presence of R3500Q, the mutation responsible for familial defective apolipoprotein B-100, which was also strongly associated with LDL-C in the replication sample (P < 10(-36)).
PMID 21868016 2011 Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
PMID 9259199 1997 Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
PMID 18222178 2008 Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).
PMID 7883971 1995 Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
PMID 15797858 2005 Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.
PMID 18325181 2008 High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
PMID 9105560 1997 Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.