Article
A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.
American journal of human genetics - 1 Feb 1992
Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen D R, Coetzee G A, Leitersdorf E
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the LDL receptor gene. Here we characterize an LDL receptor mutation that is associated with a distinct haplotype and causes FH in the Druze, a small Middle Eastern Islamic sect with a high degree of inbreeding. The mutation was found in FH families from two distinct Druze villages from the Golan Heights (northern Israel)....
Topics
- Base Sequence
- DNA
- Genes, Dominant
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Islam
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction