Article
Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.
Human genetics - 1 Dec 1991
Graadt van Roggen F, van der Westhuyzen D R, Marais A D, Gevers W, Coetzee G A
Abstract excerpt
Afrikaners with familial hypercholesterolaemia (FH) were screened for the presence of three point mutations in the low density lipoprotein receptor gene that were previously described as being relatively common in this population. The prevalence and distribution of the mutations were compared in 27 unrelated homozygous and 79 unrelated heterozygous FH Afrikaner patients from two regions in South Africa, the...
Topics
- Alleles
- Apolipoproteins B
- Base Sequence
- Heterozygote
- Homozygote
- Hyperlipoproteinemia Type II
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Receptors, LDL
- South Africa