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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Chen, Yabin, Jia, Xiaoyun, Wang, Panfeng, Xiao, Xueshan, Li, Shiqiang, Guo, Xiangming, Zhang, Qingjiong
Format: Artigo
Sprache:Inglês
Veröffentlicht: Molecular Vision 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3566897/
https://ncbi.nlm.nih.gov/pubmed/23401657
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