Article
South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.
Human genetics - 1 Dec 1993
Defesche J C, van Diermen D E, Lansberg P J, Lamping R J, Reymer P W, Hayden M R, Kastelein J J
Abstract excerpt
In South African Afrikaners, three point mutations in the gene coding for the low-density lipoprotein (LDL)-receptor are responsible for more than 95% of the cases of familial hypercholesterolemia (FH). To investigate whether one or more of these mutations originated in The Netherlands, a large g...
Topics
- Alleles
- DNA
- Exons
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Methionine
- Netherlands
- Point Mutation
- Polymorphism, Restriction Fragment Length
- Receptors, LDL
- South Africa
- Valine