Article
Cholesteryl ester transfer protein gene: two common mutations and their effect on plasma high-density lipoprotein cholesterol content.
The Journal of clinical endocrinology and metabolism - 1 Dec 1994
Akita H, Chiba H, Tsuchihashi K, Tsuji M, Kumagai M, Matsuno K, Kobayashi K
Abstract excerpt
Cholesteryl ester transfer protein regulates high-density lipoprotein cholesterol (HDL-C) level, and genetic deficiency causes hyperalphalipoproteinemia (HALP). The G to A mutation in the intron 14 splice donor (I14A) has been known to be a common mutation in HALP. Recently, another mutant, D442G (Asp 442 to Gly), was ascertained. The allelic frequencies of I14A and D442G were investigated using 226 unrelated...
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