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Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome

✍ Scribed by Kouichi Inukai; Takuya Awata; Kiyoaki Inoue; Susumu Kurihara; Youhei Nakashima; Masaki Watanabe; Takahiro Sawa; Nobuki Takata; Shigehiro Katayama


Book ID
116405343
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
222 KB
Volume
69
Category
Article
ISSN
0168-8227

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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,

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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