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[Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2007

Zhao Fu-xin, Zhou Xiang-tian, Qu Jia, Wei Qi-ping, Tong Yi, Yang Li, Lv Jian-xin, Guan Min-xin

Abstract excerpt

OBJECTIVE: To report the clinical, genetic, and molecular characterization of two Chinese families with Leber's hereditary optic neuropathy (LHON). METHODS: Ophthalmological examinations showed that only probands in two families exhibited visual loss at the age of 10 and 17 years respectively. The entire mitochondrial genome of two probands was PCR amplified in 24 overlapping fragments using sets of...

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PMID: 17922426

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