Article
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
BMC medical genetics - 26 May 2010
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
Abstract excerpt
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 case of temperature sensitive non-syndromic auditory neuropathy (TS-NSRAN) and 92 ethnicity-matched controls with...
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