POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F...

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Detalles Bibliográficos
Autores principales: Kitano, Tomohiro, Miyagawa, Maiko, Nishio, Shin-ya, Moteki, Hideaki, Oda, Kiyoshi, Ohyama, Kenji, Miyazaki, Hiromitsu, Hidaka, Hiroshi, Nakamura, Ken-ichi, Murata, Takaaki, Matsuoka, Rina, Ohta, Yoko, Nishiyama, Nobuhiro, Kumakawa, Kozo, Furutate, Sakiko, Iwasaki, Satoshi, Yamada, Takechiyo, Ohta, Yumi, Uehara, Natsumi, Noguchi, Yoshihiro, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435223/
https://www.ncbi.nlm.nih.gov/pubmed/28545070
http://dx.doi.org/10.1371/journal.pone.0177636

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