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 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
PMID 23936638 2013 Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.
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 27206935 2017 Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
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 24234650 2014 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
rs144467873 in
APOB gene and
Familial hypercholesterolemia - homozygous
PMID 10529757 1999 LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are.
PMID 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
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 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.
PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
PMID 17964958 2007 LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
PMID 11833852 2001 Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.
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 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
rs144467873 in
APOB gene and
Hypercholesterolemia, Familial
PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
PMID 27783906 2016 Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
rs144467873 in
APOB gene and
Hyperlipoproteinemia Type IIa
PMID 27765764 2016 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
rs144467873 in
APOB gene and
Hyperlipoproteinemia Type IIb
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 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.