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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12482565
DOI: 10.1016/s0021-9150(02)00327-1

Genes

CETP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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