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Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency

9 Nov 2007

Abstract excerpt

Our aim was to characterize HDL subspecies and fat-soluble vitamin levels in a kindred with familial apolipoprotein A-I (apoA-I) deficiency. Sequencing of the APOA1 gene revealed a nonsense mutation at codon -2, Q[-2]X, with two documented homozygotes, eight heterozygotes, and two normal subjects in the kindred. Homozygotes presented markedly decreased HDL cholesterol levels, undetectable plasma apoA-1,...

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PMID: 17991756
DOI: 10.1194/jlr.m700362-jlr200

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