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Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene

✍ Scribed by R. Valéro; S. Bannwarth; S. Roman; V. Paquis-Flucklinger; B. Vialettes


Book ID
110925429
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
165 KB
Volume
25
Category
Article
ISSN
0742-3071

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Mutational spectrum of the WFS1 gene in
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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