2010Molecular Genetics and MetabolismRequires access

Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation

Minglian Zhang, Xiangtian Zhou, Chengwu Li, Fuxin Zhao, Juanjuan Zhang, Meixia Yuan, Yanhong Sun, Jingzheng Wang, Yi Tong, Min Liang, Li Yang, Wanshi Cai, Lifei Wang, Jia Qu, Min‐Xin Guan

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Key concepts: Haplogroup, Penetrance, Leber's hereditary optic neuropathy, Genetics, Mutation, Mitochondrial DNA, Pedigree chart, Biology

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Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation — Research Paper | ScholarLens