Article
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1991
Lee J S, Anvret M
Abstract excerpt
Acute intermittent porphyria (AIP) is a metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase (PBGD, EC 4.3.1.8) activity. Previous haplotype analysis combined with genealogical data suggested a common origin of the PBGD gene mutation in the AIP families originating from northern Sweden (Lappland), where the highest prevalence of the disease (1 in 1500) is observed. An AIP...
Topics
- Base Sequence
- DNA
- Exons
- Female
- Humans
- Hydroxymethylbilane Synthase
- Introns
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation