OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we perfor...

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Udgivet i:PLoS One
Main Authors: Iwasa, Yoh-ichiro, Nishio, Shin-ya, Sugaya, Akiko, Kataoka, Yuko, Kanda, Yukihiko, Taniguchi, Mirei, Nagai, Kyoko, Naito, Yasushi, Ikezono, Tetsuo, Horie, Rie, Sakurai, Yuika, Matsuoka, Rina, Takeda, Hidehiko, Abe, Satoko, Kihara, Chiharu, Ishino, Takashi, Morita, Shin-ya, Iwasaki, Satoshi, Takahashi, Masahiro, Ito, Tsukasa, Arai, Yasuhiro, Usami, Shin-ichi
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2019
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6522017/
https://ncbi.nlm.nih.gov/pubmed/31095577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0215932
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