Article
Common low-density lipoprotein receptor mutations in the French Canadian population.
The Journal of clinical investigation - 1 Apr 1990
Leitersdorf E, Tobin E J, Davignon J, Hobbs H H
Abstract excerpt
Familial hypercholesterolemia (FH) has a frequency of 0.2% in most populations of the world. In selected populations such as the Afrikaners in South Africa, the Christian Lebanese, and the French Canadians, the disease is more frequent due to the founder effect. Previous studies demonstrated that a single mutation at the LDL receptor locus, the so-called French Canadian deletion, makes up 60% of the mutant genes...
Topics
- Base Sequence
- Canada
- DNA
- France
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Molecular Sequence Data
- Mutation
- Receptors, LDL
