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Article

A novel nonsense mutation (G181X) in the human cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects.

Journal of lipid research - 1 Oct 1996

Arai T, Yamashita S, Sakai N, Hirano K, Okada S, Ishigami M, Maruyama T, Yamane M, Kobayashi H, Nozaki S, Funahashi T, Kameda-Takemura K, Nakajima N, Matsuzawa Y

Abstract excerpt

Cholesteryl ester transfer protein (CETP) plays an important role in regulating the concentration and composition of high density lipoprotein (HDL) and low density lipoprotein (LDL). Although several genetic abnormalities causing CETP deficiency have been identified in the Japanese subjects with a marked hyperalphalipoproteinemia (HALP), there are many CETP-deficient subjects for whom the genetic abnormalities...

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PMID: 8906592

Genes

CETP

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A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia.Semantic proximity Read ↗

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