Article
Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2005
Zhang Fu-feng, Tang Bei-sha, Zhao Guo-hua, Chen Biao, Zhang Cheng, Luo Wei, Liu Xiao-min, Xia Kun, Cai Fang, Hu Zheng-mao, Yan Xin-xiang, Zhang Ru-xu, Guo Peng
Abstract excerpt
OBJECTIVE: To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease. METHODS: A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT...
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