Article
Apolipoprotein B gene mutations in Austrian subjects with heart disease and their kindred.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 2000
Friedl W, Ludwig E H, Balestra M E, Arnold K S, Paulweber B, Sandhofer F, McCarthy B J, Innerarity T L
Abstract excerpt
In a group of 110 subjects with severe coronary artery disease, two were heterozygous for the apolipoprotein (apo) B arginine3,500----glutamine mutation that characterizes familial defective apo B-100. Both affected subjects were moderately hypercholesterolemic, and their low density lipoproteins (LDLs) were deficient in binding to the LDL receptor. Pedigree analysis of the two probands' families established a...
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