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Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

We report here the clinical, genetic and molecular characterization of four Chinese families with Leber’s hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment...

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書誌詳細
主要な著者: Liang, Min, Guan, Minqiang, Zhao, Fuxing, Zhou, Xiangtian, Yuan, Meixia, Tong, Yi, Yang, Li, Wei, Qi-Ping, Sun, Yan-Hong, Lu, Fan, Qu, Jia, Guan, Min-Xin
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2905379/
https://ncbi.nlm.nih.gov/pubmed/19324017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2009.03.097
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