Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

BACKGROUND: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram...

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保存先:
書誌詳細
主要な著者: Matsunaga, Kimie, Tanabe, Katsuya, Inoue, Hiroshi, Okuya, Shigeru, Ohta, Yasuharu, Akiyama, Masaru, Taguchi, Akihiko, Kora, Yukari, Okayama, Naoko, Yamada, Yuichiro, Wada, Yasuhiko, Amemiya, Shin, Sugihara, Shigetaka, Nakao, Yuzo, Oka, Yoshitomo, Tanizawa, Yukio
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2014
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4161373/
https://ncbi.nlm.nih.gov/pubmed/25211237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106906
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