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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161373/ https://www.ncbi.nlm.nih.gov/pubmed/25211237 http://dx.doi.org/10.1371/journal.pone.0106906 |
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