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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221781/
https://www.ncbi.nlm.nih.gov/pubmed/25374051
http://dx.doi.org/10.1038/srep06936

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