Article
Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.
Atherosclerosis - 1 Oct 1992
Tybjaerg-Hansen A, Humphries S E
Abstract excerpt
Familial defective apolipoprotein B-100 is a recently identified, dominantly inherited genetic disorder caused by a G to A mutation in exon 26 of the apolipoprotein B gene. This creates a substitution of glutamine for arginine in the codon for amino acid 3500 and results in reduced affinity of low density lipoprotein (LDL) to the LDL receptor. We have integrated already published data with hitherto unpublished...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- Coronary Disease
- Gene Frequency
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Mutation
- Risk Factors