Article
Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jul 2006
Marcil Michel, Vu Hai, Cui Wei, Dastani Zari, Engert James C, Gaudet Daniel, Castro-Cabezas Manuel, Sniderman Allan D, Genest Jacques, Cianflone Katherine
Abstract excerpt
OBJECTIVE: A functional acylation stimulating protein (ASP) receptor, C5L2, has been recently identified in ASP-responsive cells. Impaired ASP-mediated triglyceride synthesis has previously been described in a subset of hyperapolipoprotein B/familial combined hyperlipidemia subjects. METHODS AND RESULTS: DNA sequencing of C5L2 coding region in 61 unrelated probands identified a heterozygous variant (G968-->T) in...
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