Article
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Human mutation - 1 Jan 1994
Astrin K H, Desnick R J
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with life-threatening acute attacks...
Topics
- Chromosome Mapping
- DNA Mutational Analysis
- Heme
- Humans
- Hydroxymethylbilane Synthase
- Mutation
- Polymorphism, Genetic
- Porphyria, Acute Intermittent