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Mutation screening of the Wolfram syndrome gene in psychiatric patients

✍ Scribed by Torres, R; Leroy, E; Hu, X; Katrivanou, A; Gourzis, P; Papachatzopoulou, A; Athanassiadou, A; Beratis, S; Collier, D; Polymeropoulos, M H


Book ID
110059245
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
196 KB
Volume
6
Category
Article
ISSN
1359-4184

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WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition, sev