Article
[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2005
Wang Yan, Guo Xiang-ming, Jia Xiao-yun, Li Shi-qiang, Xiao Xue-shan, Guo Li, Zhang Qing-jiong
Abstract excerpt
OBJECTIVE: To analyze the mutation of Leber's hereditary optic neuropathy (LHON) and the clinical features in Chinese patients. METHODS: The primary mtDNA mutations (3460A, 11778A and 14484C) of 156 patients (110 probands and 46 maternal relatives with LHON) were detected by mutation-specific priming polymerase chain reaction, heteroduplex-single strand conformation polymorphism polymerase chain reaction,...
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