Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy

PURPOSE: Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary op...

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Detalles Bibliográficos
Autores principales: Chen, Yabin, Jia, Xiaoyun, Wang, Panfeng, Xiao, Xueshan, Li, Shiqiang, Guo, Xiangming, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566897/
https://www.ncbi.nlm.nih.gov/pubmed/23401657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566897/
https://www.ncbi.nlm.nih.gov/pubmed/23401657

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