WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variant...

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Detalles Bibliográficos
Autores principales: Kobayashi, Masafumi, Miyagawa, Maiko, Nishio, Shin-ya, Moteki, Hideaki, Fujikawa, Taro, Ohyama, Kenji, Sakaguchi, Hirofumi, Miyanohara, Ikuyo, Sugaya, Akiko, Naito, Yasushi, Morita, Shin-ya, Kanda, Yukihiko, Takahashi, Masahiro, Ishikawa, Kotaro, Nagano, Yuki, Tono, Tetsuya, Oshikawa, Chie, Kihara, Chiharu, Takahashi, Haruo, Noguchi, Yoshihiro, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846739/
https://www.ncbi.nlm.nih.gov/pubmed/29529044
http://dx.doi.org/10.1371/journal.pone.0193359

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