A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family

Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known ret...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Zhang, Liping, Shi, Wei, Song, Liming, Zhang, Xiao, Cheng, Lulu, Wang, Yanfang, Ge, Xianglian, Li, Wei, Zhang, Wei, Min, Qingjie, Jin, Zi-Bing, Qu, Jia, Gu, Feng
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4221781/
https://ncbi.nlm.nih.gov/pubmed/25374051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep06936
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