WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA...
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
About this item
Full title
Author / Creator
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 and Usami, Shin-ichi
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 variants were screened in a large series of Japanese hear...
Alternative Titles
Full title
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2013192587
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2013192587
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0193359
