Article
Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.
Arteriosclerosis (Dallas, Tex.) - 1 Jan 2000
Schuster H, Rauh G, Kormann B, Hepp T, Humphries S, Keller C, Wolfram G, Zöllner N
Abstract excerpt
It has recently been suggested that a substitution of glutamine for arginine at residue 3500 of apolipoprotein (apo) B-100 causes familial defective apo B-100 (FDB), an autosomal, dominantly inherited disorder, which leads to increased serum cholesterol levels. From a sample of 243 patients from...
Topics
- Adult
- Amino Acid Sequence
- Apolipoprotein B-100
- Apolipoproteins B
- Arginine
- Cholesterol, LDL
- DNA
- Germany, West
- Glutamine
- Humans
- Hyperlipoproteinemia Type II
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Receptors, Cell Surface
- Receptors, Lipoprotein