Article
Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.
Human heredity - 1 Jan 2000
Puy H, Deybach J C, Lamoril J, Robreau A M, Nordmann Y
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by alterations of the gene encoding porphobilinogen deaminase (PBGD: EC 4.3.1.8), the third enzyme of the heme biosynthetic pathway. The molecular heterogeneity of the mutations causing AlP has been demonstrated wi...
Topics
- Electrophoresis
- France
- Genes, Dominant
- Humans
- Hydroxymethylbilane Synthase
- Mutation
- Porphyria, Acute Intermittent
- White People