Article
Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene.
Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 1995
Zhang H, Reymer P W, Liu M S, Forsythe I J, Groenemeyer B E, Frohlich J, Brunzell J D, Kastelein J J, Hayden M R, Ma Y
Abstract excerpt
Approximately 1% to 2% of persons in the general population are homozygous for a lipoprotein receptor-binding defective form of apoE (apoE2/2). However, only a small percentage (2% to 5%) of all apoE2/2 homozygotes develop type III hyperlipoproteinemia. Interaction with other genetic and environmental factors are required for the expression of this lipid abnormality. We sought to investigate the possible role of...
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