Article
[Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2007
Wang Ying, Tong Yi, Hu Shi-xing, Wang Jian-yong, Shao Jun-bin, Zhang Hong-xing
Abstract excerpt
OBJECTIVE: To investigate the effect of secondary mutations on Leber's hereditary optic neuropathy (LHON). METHODS: Three primary and 24 secondary mutations were identified in 4 Chinese families which included male offspring. RESULTS: All of the four pedigrees carried classic LHON mutations at nucleotide (nt) 11778, and did not carry any point of 24 secondary mutations. Nevertheless many polymorphic points were...
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