Article
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.
Human mutation - 1 Jan 1996
Deeb S S, Nevin D N, Iwasaki L, Brunzell J D
Abstract excerpt
It has been suggested that apo A-IV may play a role in modulating the activation of lipoprotein lipase (LPL) by apo C-II (Goldberg et al., 1990). Therefore, the role of genetic variation at the apolipoprotein A-IV locus in familial combined hyperlipidemia (FCHL) was investigated. A subset of FCHL...
Topics
- Amino Acid Sequence
- Apolipoproteins A
- Base Sequence
- Cholesterol
- Genetic Carrier Screening
- Genetic Variation
- Homozygote
- Humans
- Hyperlipidemia, Familial Combined
- Lipoprotein Lipase
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Reference Values
- Triglycerides