Article
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
American journal of human genetics - 1 Sept 1992
Gu X F, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a partial deficiency of porphobilinogen (PBG) deaminase. Different subtypes of the disease have been defined, and more than 10 different mutations have been described. We focused our study on exon 10, since we previously found that three different mutations were located in this exon and that two of them seemed to be relatively...
Topics
- Acute Disease
- Base Sequence
- Cloning, Molecular
- Electrophoresis
- Exons
- Humans
- Hydroxymethylbilane Synthase
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation