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A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies

✍ Scribed by Akinobu Nakamura; Chikara Shimizu; So Nagai; Satoshi Taniguchi; Masaaki Umetsu; Toshiya Atsumi; Norio Wada; Narihito Yoshioka; Yuri Ono; Yukio Tanizawa; Takao Koike


Book ID
116405543
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
75 KB
Volume
73
Category
Article
ISSN
0168-8227

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Molecular detection of novel WFS1 mutati
✍ Alessia Colosimo; Valentina Guida; Luciana Rigoli; Chiara Di Bella; Alessandro D πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 214 KB πŸ‘ 2 views

Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical features, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Affected individuals may also show renal tract abnormali