Article
Molecular basis of type III hyperlipoproteinemia in Germany.
Human mutation - 1 Jan 1998
Feussner G, Feussner V, Hoffmann M M, Lohrmann J, Wieland H, März W
Abstract excerpt
Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg112 --> Cys, Arg158 --> Cys). This common apo E isoform is defective in its binding to lipoprotein receptors. However, other rare mutations in the apo epsilon gene may also, in part dominantly, predispose to the disease. In order to assess the prevalence of rare apo E variants and mutations in the apo...
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