Article
[CETP deficiency].
Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1994
Inazu A, Koizumi J, Mabuchi H
Abstract excerpt
Four different CETP gene mutations have been reported to be causes of increased levels of HDL cholesterol by us and other investigators; two splice donor site mutations involving intron 14, one missense mutation of D442G in exon 15, and one nonsense mutation of Q309X in exon10. Two splice donor site mutations are G (+1)-to-A transition (Int14A) and T insertion at the +3 position (Int14T), and both mutations...
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