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Article

A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred.

Atherosclerosis - 1 Aug 2009

Calabresi Laura, Nilsson Peter, Pinotti Elisa, Gomaraschi Monica, Favari Elda, Adorni Maria Pia, Bernini Franco, Sirtori Cesare R, Calandra Sebastiano, Franceschini Guido, Tarugi Patrizia

Abstract excerpt

OBJECTIVE: To analyze the cholesteryl ester transfer protein (CETP) gene and the plasma HDL phenotype in a Caucasian subject with extremely elevated plasma high density lipoprotein-cholesterol (HDL-C). METHODS AND RESULTS: The proband, a 63-year-old male of Swedish ancestry with elevated HDL-C (208mg/dl) and apoA-I (and 272mg/dl), was found to be homozygous for a point mutation in exon 2 of CETP gene (c.109 C>T)...

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Source

Identifiers

PMID: 19200546
DOI: 10.1016/j.atherosclerosis.2009.01.006

Genes

CETP
ABCA1
ABCG1

Variants

Provenance

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