Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522017/ https://www.ncbi.nlm.nih.gov/pubmed/31095577 http://dx.doi.org/10.1371/journal.pone.0215932 |
Ejemplares similares
-
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2013) -
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2021) -
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2016) -
Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2021) -
Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation
por: Abe, Satoko, et al.
Publicado: (2018)