Article
Molecular basis of type III hyperlipoproteinemia in Germany.
Human mutation - 1 Jan 1998
Feussner G, Feussner V, Hoffmann M M, Lohrmann J, Wieland H, März W
Abstract excerpt
Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg112 --> Cys, Arg158 --> Cys). This common apo E isoform is defective in its binding to lipoprotein receptors. However, other rare mutations in the apo epsilon gene may also, in part dominan...
Topics
- Adult
- Amino Acid Substitution
- Apolipoprotein E2
- Apolipoproteins E
- Codon, Terminator
- Female
- Genetic Predisposition to Disease
- Germany
- Homozygote
- Humans
- Hyperlipoproteinemias
- Male
- Middle Aged
- Molecular Epidemiology
- Mutation
- Pedigree