Article
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
The Journal of clinical investigation - 1 Nov 1994
Chen C H, Astrin K H, Lee G, Anderson K E, Desnick R J
Abstract excerpt
Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme, hydroxymethylbilane synthase (EC 4.3.1.8). Diagnosis of AIP heterozygotes is essential to prevent acute, life-threatening neurologic attacks by avoiding various precipitating factors. Since biochemical diagnosis is problematic, the identification of hydroxymethylbilane...
Topics
- Base Sequence
- Codon
- Exons
- Humans
- Hydroxymethylbilane Synthase
- Isoenzymes
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational