Article
Review: molecular pathogenesis of hepatic acute porphyrias.
Journal of gastroenterology and hepatology - 1 Nov 1996
Grandchamp B, Puy H, Lamoril J, Deybach J C, Nordmann Y
Abstract excerpt
The molecular cloning of cDNA and genes encoding enzymes of the haem biosynthetic pathway have permitted the genetic defects underlying acute intermittent porphyria (AIP) and hereditary coproporphyria to be unravelled. In AIP, many different gene abnormalities have been documented since 1989. The...
Topics
- Animals
- Coproporphyrinogen Oxidase
- Diagnosis, Differential
- Flavoproteins
- Humans
- Hydroxymethylbilane Synthase
- Mitochondrial Proteins
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Porphyria, Acute Intermittent
- Protoporphyrinogen Oxidase