Article
Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy.
Molecular vision - 1 Jan 2012
Bi Rui, Zhang A-Mei, Jia Xiaoyun, Zhang Qingjiong, Yao Yong-Gang
Abstract excerpt
PURPOSE: The majority of Leber hereditary optic neuropathy (LHON) cases are caused by one of three mitochondrial DNA (mtDNA) primary mutations (m.3460G>A, m.11778G>A, and m.14484T>C). In recent studies, we and others have shown that mutation m.3635G>A is a primary LHON mutation, particularly in Chinese. The purpose of this study was to perform a thorough analysis for the complete mtDNA genome sequence variation...
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