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 identified a homozygous nonsense mutation in codon 32 (Q32X) of the apoA-I gene as the molecular basis of apoA-I...
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