Article
[Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2009
Zhao Juan, Wu Ling-qian, Feng Yong, Hu Hao, Pan Qian, Xiong Le-qin, Liang De-sheng
Abstract excerpt
OBJECTIVE: To develop a rapid genetic diagnosis technique for the patients with hereditary hearing loss by screening hot spots of mutations, namely 235delC of the GJB2 gene, IVS7-2A>G of the SLC26A4 gene, and 1555A>G of mitochondrial 12S rRNA. METHODS: Multiple PCR amplification of the three frag...
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