Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation

We report here the clinical, genetics and molecular characterization of a five-generation Han Chinese family with Leber’s hereditary optic neuropathy (LHON). Strikingly, this family exhibits very high penetrance and occurrence of optic neuropathy. In particular, twenty-five (10 males/15 females) of...

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Detalhes bibliográficos
Main Authors: Zhou, Xiangtian, Zhang, Hongxing, Zhao, Fuxin, Ji, Yanchun, Tong, Yi, Zhang, Juanjuan, Zhang, Yu, Yang, Li, Qian, Yaping, Lu, Fan, Qu, Jia, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2906641/
https://ncbi.nlm.nih.gov/pubmed/20627642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.04.013
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