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 s...
Topics
- Carrier Proteins
- Cholesterol Ester Transfer Proteins
- Cholesterol, HDL
- Glycoproteins
- Humans
- Hypercholesterolemia
- Japan
- Mutation
