Article
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Disease markers - 1 Jan 2000
Tjensvoll Kjersti, Bruland Ove, Floderus Ylva, Skadberg Øyvind, Sandberg Sverre, Apold Jaran
Abstract excerpt
Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD). The mutation spectrum in the HMBS gene is characterized by a majority of family specific mutations. Among the exceptions are R116W and W198X, with high prevalence in both the Dutch and Swedish populations. These...
Topics
- Founder Effect
- Gene Frequency
- Haplotypes
- Humans
- Hydroxymethylbilane Synthase
- Microsatellite Repeats
- Mutation
- Norway
- Polymorphism, Single Nucleotide
- Polymorphism, Single-Stranded Conformational
- Porphyria, Acute Intermittent
- Sweden