Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria
Schneider-Yin, Xiaoye, Bogard, Catherine, Rüfenacht, Ursula B., Puy, Hervé, Nordmann, Yves, Minder, Elisabeth I., Deybach, Jean-CharlesVolume:
50
Language:
english
Journal:
Human Heredity
DOI:
10.1159/000022924
Date:
April, 2000
File:
PDF, 419 KB
english, 2000