Article
Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects.
Atherosclerosis - 24 Apr 1995
Sakai N, Yamashita S, Hirano K, Menju M, Arai T, Kobayashi K, Ishigami M, Yoshida Y, Hoshino T, Nakajima N
Abstract excerpt
Cholesteryl ester transfer protein (CETP) transfers cholesteryl ester from high density lipoprotein (HDL) to apo B-containing lipoproteins. The hyperalphalipoproteinemia caused by CETP deficiency is fairly common in Japan and one of the most common mutations in the CETP gene is the splicing defect of the intron 14, the allelic frequency of which has been shown to be 0.0049 in the Japanese general population....
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