Article
[GJB2 gene mutation in deaf patients].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2009
Xu Zhi-yong, Gao Guo-feng, Liu Chang, Hu Yu-hua, Lin Yi, Zhang Ruan-zhang, Liu Ming, Wang Sha-yan
Abstract excerpt
OBJECTIVE: To detect the GJB2 gene mutation in patients with autosomal-recessive deafness, and analyze the relationship between clinical phenotype and gene mutation. METHODS: Forty-two patients were examined clinically by pure tone audiometry, acoustic impedance and auditory brainstem response. The complete coding region of the GJB2 gene was amplified by polymerase chain reaction (PCR) and the PCR products were...
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