Article
[Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2015
Sun Xuejing, Xi Zuoming, Zhang Jing, Liu Baoyan, Xing Xinli, Huang Xin, Zhao Qing
Abstract excerpt
OBJECTIVE: To evaluate the efficacy of combined newborn hearing screening and deafness-related mutation screening. METHODS: Eleven thousand and forty-six newborn babies were screened with otoacoustic emission, automatic auditory brainstem response and genetic testing using a standard protocol. Common mutations of three deafness-related genes have included GJB2 (c.235delC, c.299-300delAT), mtDNA 12srRNA...
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