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Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation

We report here the clinical, genetic, and molecular characterization of five Han Chinese families with Leber's hereditary optic neuropathy (LHON). Strikingly, there were very low penetrances of visual impairment in these Chinese families, ranging from 4.2% to 22.2%, with an average of 10.2%. In...

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Hlavní autoři: Tong, Yi, Sun, Yan-Hong, Zhou, Xiangtian, Zhao, Fuxin, Mao, Yijian, Wei, Qi-ping, Yang, Li, Qu, Jia, Guan, Min-Xin
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2839065/
https://ncbi.nlm.nih.gov/pubmed/20053576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.12.004
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