Article
Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population--relation between the mutation and hyperalphalipoproteinemia.
Atherosclerosis - 1 Apr 1993
Hirano K, Yamashita S, Funahashi T, Sakai N, Menju M, Ishigami M, Hiraoka H, Kameda-Takemura K, Tokunaga K, Hoshino T
Abstract excerpt
Cholesteryl ester transfer protein (CETP) deficiency, which has been found only in Japan, is characterized by marked hyperalphalipoproteinemia (HALP) and abnormalities of both low density and high density lipoproteins. We have reported that this deficiency is commonly associated with a G-->A mutation at the intron 14 splice donor site of the CETP gene (Yamashita et al., Biochem. Biophys. Res. Commun., 170 (1990)...
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