Mutational spectrum of the WFS1 gene in
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Kim Cryns; Theru A. Sivakumaran; Jody M.W. Van den Ouweland; Ronald J.E. Penning
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Article
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2003
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John Wiley and Sons
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English
⚖ 490 KB
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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