Article
A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Dec 1994
Römling R, von Eckardstein A, Funke H, Motti C, Fragiacomo G C, Noseda G, Assmann G
Abstract excerpt
Conflicting data from epidemiological trials, genetic family studies, transgenic animal models, and in vitro experiments have created controversy regarding the importance of HDL and apolipoprotein (apo) A-I for reverse cholesterol transport and protection from atherosclerosis. In this study we id...
Topics
- Adult
- Apolipoprotein A-I
- Base Sequence
- Cholesterol, HDL
- Codon, Nonsense
- Coronary Disease
- Eyelid Diseases
- Female
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Xanthomatosis