Article
Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.
Gene geography : a computerized bulletin on human gene frequencies - 1 Apr 1996
Defesche J C, Van Diermen D E, Hayden M R, Kastelein J P
Abstract excerpt
Of the three major Afrikaner founder mutations, responsible for more than 95% of Familial Hypercholesterolemia cases among South African Afrikaners, one mutation called V408M or FHAfrikaner-2 was identified in the Netherlands. Subsequent analysis of a group of Canadian patients of Dutch origin wi...
Topics
- Adult
- Canada
- DNA Mutational Analysis
- Emigration and Immigration
- Female
- Founder Effect
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation
- Netherlands
- Pedigree
- Receptors, LDL
- South Africa