Article
APOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels.
Clinical chemistry and laboratory medicine - 1 Jan 2008
Hubacek Jaroslav A, Wang Wu-Wei, Skodová Zdena, Adámková Vera, Vráblík Michal, Horínek Ales, Stulc Tomás, Ceska Richard, Talmud Philippa J
Abstract excerpt
BACKGROUND: The importance of the apolipoprotein A5 (APOA5) gene in determining plasma triglyceride (TG) levels has been demonstrated in transgenic and knockout mice and confirmed by human association studies in different ethnic groups. METHODS: We screened for nonsynonymous APOA5 mutations in patients with plasma TG levels >10 mmol/L. The coding sequence and promoter region of the APOA5 gene were sequenced in 95...
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