## 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,
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome
β Scribed by A. Tessa; I. Carbone; M.C. Matteoli; C. Bruno; C. Patrono; I.P. Patera; F. De Luca; R. Lorini; F.M. Santorelli
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 55 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.32
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Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identif
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