Article
Heterozygous apolipoprotein C-II deficiency: lipoprotein and apoprotein phenotype and RsaI restriction enzyme polymorphism in the Apo C-IIPadova kindred.
European journal of clinical investigation - 1 Sept 1993
Gabelli C, Bilato C, Santamarina-Fojo S, Martini S, Brewer H B, Crepaldi G, Baggio G
Abstract excerpt
Deficiency of apolipoprotein C-II (apo C-II), the cofactor for lipoprotein lipase, results in the familial chylomicronaemia syndrome characterized by severe hypertriglyceridaemia and fasting chylomicronaemia. To investigate the biochemical features of the heterozygous state for apo C-II deficiency, we characterized the lipid, lipoprotein and apolipoprotein profiles in 18 relatives of two affected individuals...
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