Article
Familial dysbetalipoproteinemia: a genetically heterogenous disease caused by mutations of the ligand apolipoprotein E.
The Journal of investigative dermatology - 1 Jun 1992
Vermeer B J, Frants R R, Havekes L M
Abstract excerpt
Apolipoprotein E is present on the surface of very-low-density lipoprotein (VLDL) and chylomicron-remnants and is essential for the receptor mediated endocytosis of these particles via hepatic receptors. Several types of mutations of the apoE can cause a deficiency in the clearance of these remnant particles. An accumulation of lipoprotein-remnant particles may occur and familial dysbetalipoproteinemia (FD)...
Topics
- Apolipoproteins E
- Gene Amplification
- Genetic Variation
- Genotype
- Humans
- Hyperlipoproteinemia Type III
- Mutation
- Phenotype