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 with a reported predominance of single base substitutions resulting in amino acid changes. The molecular basis of AIP in...
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