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Extremely Low Penetrance of Leber’s Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation

PURPOSE: To investigate the role of mitochondrial haplotypes in the development of Leber’s hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families. DESIGN: Eight Han Chinese families with maternally transmitted LHON were studied using clinical, genetic, and mo...

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Detalhes bibliográficos
Main Authors: Qu, Jia, Zhou, Xiangtian, Zhang, Juanjuan, Zhao, Fuxin, Sun, Yan-Hong, Tong, Yi, Wei, Qi-Ping, Cai, Wansi, Yang, Li, West, Constance E., Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2907161/
https://ncbi.nlm.nih.gov/pubmed/19167085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2008.10.022
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