Article
Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.
The Clinical investigator - 1 Jan 1992
Rauh G, Keller C, Schuster H, Wolfram G, Zöllner N
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder characterized by a decreased binding of low density lipoprotein (LDL) to the LDL receptor due to defective apo B-100. FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. The arginine...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- Arteriosclerosis
- Gene Frequency
- Genetic Carrier Screening
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Mutation