Article
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
Human genetics - 1 Jan 1994
Gu X F, de Rooij F, Voortman G, Te Velde K, Deybach J C, Nordmann Y, Grandchamp B
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by mutations of the gene coding for porphobilinogen deaminase (PBGD). Until now, sixteen different mutations have been described. In an effort to investigate further the molecular epidemiology of AIP, we have undertaken a systematic study of different exons of the PBGD gene from a large number of unrelated patients. Here, we have...
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