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 deficienc...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Apolipoprotein C-II
- Apolipoproteins C
- Family
- Female
- Heterozygote
- Homozygote
- Humans
- Lipids
- Lipoproteins
- Male
- Middle Aged
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length