Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

BACKGROUND: Mutations in OTOF gene, encoding otoferlin, cause DFNB9 deafness and non-syndromic auditory neuropathy (AN). The aim of this study is to identify OTOF mutations in Chinese patients with non-syndromic auditory neuropathy. METHODS: 73 unrelated Chinese Han patients with AN, including one c...

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Detalles Bibliográficos
Autores principales: Wang, Da-Yong, Wang, Yi-Chen, Weil, Dominique, Zhao, Ya-Li, Rao, Shao-Qi, Zong, Liang, Ji, Yu-Bin, Liu, Qiong, Li, Jian-Qiang, Yang, Huan-Ming, Shen, Yan, Benedict-Alderfer, Cindy, Zheng, Qing-Yin, Petit, Christine, Wang, Qiu-Ju
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901213/
https://www.ncbi.nlm.nih.gov/pubmed/20504331
http://dx.doi.org/10.1186/1471-2350-11-79

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901213/
https://www.ncbi.nlm.nih.gov/pubmed/20504331
http://dx.doi.org/10.1186/1471-2350-11-79

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