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[The mitochondrial tRNA(Thr) A15951G mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2011

Zhang Yu, Zhang Juan-juan, Ji Yan-chun, Zhang Ming-lian, Tong Yi, Zhao Fu-xin, Qu Jia, Zhou Xiang-tian, Guan Min-xin

Abstract excerpt

OBJECTIVE: To explore clinical, genetic and molecular features of two Chinese Han families with Leber's hereditary optic neuropathy (LHON). METHODS: Ophthalmologic examinations revealed variable severity and age-at-onset of visual loss among probands and other matrilineal relatives of both families. The families exhibited extremely low penetrance of visual impairment. The entire mitochondrial genome of two...

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PMID: 21983721
DOI: 10.3760/cma.j.issn.1003-9406.2011.05.006

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