Article
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
Journal of lipid research - 1 Aug 1990
Innerarity T L, Mahley R W, Weisgraber K H, Bersot T P, Krauss R M, Vega G L, Grundy S M, Friedl W, Davignon J, McCarthy B J
Abstract excerpt
Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- Female
- Genes
- Humans
- Hyperlipoproteinemia Type II
- Male
- Mutation
- Pedigree
- Restriction Mapping