Article
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.
Clinical genetics - 1 Jun 1997
Kotze M J, Loubser O, Thiart R, de Villiers J N, Langenhoven E, Theart L, Steyn K, Marais A D, Raal F J
Abstract excerpt
Mutation analysis of genomic DNA samples obtained from seven unrelated South African Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent missense mutations in the low density lipoprotein receptor (LDLR) gene. The novel mutations are transversions of C to G and A...
Topics
- Adolescent
- Adult
- Child
- Cholesterol, LDL
- Founder Effect
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Hypercholesterolemia
- Incidence
- India
- Male
- Middle Aged
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL