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Identification of the DSPP mutation in a new kindred and phenotype–genotype correlation

✍ Scribed by S-K Lee; K-E Lee; Y-H Hwang; M Kida; T Tsutsumi; T Ariga; J-C Park; J-W Kim


Book ID
111272577
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
523 KB
Volume
17
Category
Article
ISSN
1354-523X

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## Abstract Mutations in the __WFS1__ gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the __WFS1__ gene,