Article
Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.
Clinical genetics - 1 May 2014
Bochem A E, van Capelleveen J C, Dallinga-Thie G M, Schimmel A W M, Motazacker M M, Tietjen I, Singaraja R R, Hayden M R, Kastelein J J P, Stroes E S G, Hovingh G K
Abstract excerpt
Apolipoprotein C3 (APOC3) mutations carriers typically display high plasma high-density lipoprotein cholesterol (HDL-C) and low triglycerides (TGs). We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals with hyperalphalipoproteinemia. Two novel mutations (c.-13-2A>G and c.55+1G>A) and one known mutation (c.127G>A;p.Ala43Thr) were found. Lipid profiles and apoCIII...
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