Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family

We report here the characterization of a four-generation Han Chinese family with Leber’s hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Qu, Jia, Li, Ronghua, Zhou, Xiangtian, Tong, Yi, Yang, Li, Chen, Jie, Zhao, Fuxing, Lu, Chunjie, Qian, Yaping, Lu, Fan, Guan, Min-Xin
Format: Artigo
Langue:Inglês
Publié: 2006
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2014724/
https://ncbi.nlm.nih.gov/pubmed/17300996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2006.11.015
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