Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency

Khalid Alrasadi; Isabelle L. Ruel; Michel Marcil; Jacques Genest

doi:10.1016/j.atherosclerosis.2005.10.048

Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency

Khalid Alrasadi, Isabelle L. Ruel, Michel Marcil^*, Jacques Genest

^*Corresponding author for this work

Biochemistry

Research output: Contribution to journal › Article › peer-review

31 Citations (Scopus)

Abstract

Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency. We examined the prevalence of mutations at the ABCA1 gene in 58 unrelated probands of French-Canadian descent with HDL deficiency (HDL-C <5th percentile). A defective cellular cholesterol or phospholipid efflux (

Original language	English
Pages (from-to)	281-291
Number of pages	11
Journal	Atherosclerosis
Volume	188
Issue number	2
DOIs	https://doi.org/10.1016/j.atherosclerosis.2005.10.048
Publication status	Published - Oct 2006

Keywords

ABCA1
Cellular cholesterol and phospholipid efflux
Familial HDL deficiency
Gene defects

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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abstract = "Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency. We examined the prevalence of mutations at the ABCA1 gene in 58 unrelated probands of French-Canadian descent with HDL deficiency (HDL-C <5th percentile). A defective cellular cholesterol or phospholipid efflux (",

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KW - Cellular cholesterol and phospholipid efflux

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KW - Gene defects

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