A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family

BACKGROUND: To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family. METHODS: A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen Eye Hospital, China. Four affected family membe...

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Detalhes bibliográficos
Publicado no:J Ophthalmol
Main Authors: Mei, Shaoyi, Huang, Xiaosheng, Cheng, Lin, Peng, Shiming, Zhu, Tianhui, Chen, Liang, Wang, Yan, Zhao, Jun
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6875404/
https://ncbi.nlm.nih.gov/pubmed/31781369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/1424928
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