Article
Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia.
Atherosclerosis - 1 Jan 2003
Maruyama Takao, Sakai Naohiko, Ishigami Masato, Hirano Ken-ichi, Arai Takeshi, Okada Sugako, Okuda Eiko, Ohya Atsuko, Nakajima Norimichi, Kadowaki Ken, Fushimi Etsuko, Yamashita Shizuya, Matsuzawa Yuji
Abstract excerpt
A patient with cholesteryl ester transfer protein (CETP) deficiency presents with marked hyperalphalipoproteinemia (HALP). To investigate the contribution of CETP deficiency to the cause of HALP (HDL-C> or =1.94 mmol/l, 75 mg/dl), we investigated the CETP activities and the prevalence of genetic CETP mutations among 624 Japanese HALP subjects. The subjects were screened for four known genetic CETP mutations...
Topics
- Adult
- Aged
- Apolipoproteins
- Carrier Proteins
- Cholesterol
- Cholesterol Ester Transfer Proteins
- Female
- Glycoproteins
- Humans
- Hyperlipoproteinemias
- Japan
- Male
- Middle Aged