Article
A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.
The Journal of clinical investigation - 1 Oct 1993
Takahashi K, Jiang X C, Sakai N, Yamashita S, Hirano K, Bujo H, Yamazaki H, Kusunoki J, Miura T, Kussie P
Abstract excerpt
Plasma HDL are a negative risk factor for atherosclerosis. Cholesteryl ester transfer protein (CETP; 476 amino acids) transfers cholesteryl ester from HDL to other lipoproteins. Subjects with homozygous CETP deficiency caused by a gene splicing defect have markedly elevated HDL; however, heterozygotes have only mild increases in HDL. We describe two probands with a CETP missense mutation (442 D:G). Although...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.