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WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Hum Mutat. 2001 May;17(5):357-67. doi: 10.1002/humu.1110.
Hum Mutat. 2001.
PMID: 11317350
Review.
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA.
Inoue H, et al.
Nat Genet. 1998 Oct;20(2):143-8. doi: 10.1038/2441.
Nat Genet. 1998.
PMID: 9771706
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