Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

Xiaoye Schneider-Yin,Catherine Bogard,Ursula B. Rüfenacht,Hervé Puy,Yves Nordmann,Elisabeth I. Minder,Jean-Charles Deybach

Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

2000

Xiaoye Schneider-Yin
Catherine Bogard
Ursula B. Rüfenacht
Hervé Puy
Yves Nordmann
Elisabeth I. Minder
Jean-Charles Deybach

Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by decreased activity of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. We report the

Keywords:

Genetics
Molecular biology
Enzyme
Gene
Porphobilinogen deaminase
Heme
Biology
Dominance (genetics)
Nonsense mutation
Temperature gradient gel electrophoresis
Acute intermittent porphyria

Correction
Source
Cite
Save
Machine Reading By IdeaReader

References

Citations