An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

BACKGROUND: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function. OBJECTIVE: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family. METHODS: A four-generation consangui...

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Detalles Bibliográficos
Autores principales: Xia, Hong, Huang, Xiangjun, Xu, Hongbo, Guo, Yi, Hu, Pengzhi, Deng, Xiong, Yang, Zhijian, Liu, An, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030853/
https://www.ncbi.nlm.nih.gov/pubmed/30065612
http://dx.doi.org/10.2174/1389202919666171113152951

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030853/
https://www.ncbi.nlm.nih.gov/pubmed/30065612
http://dx.doi.org/10.2174/1389202919666171113152951

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