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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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Detalles Bibliográficos
Autores principales:	Mei, Shaoyi, Huang, Xiaosheng, Cheng, Lin, Peng, Shiming, Zhu, Tianhui, Chen, Liang, Wang, Yan, Zhao, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875404/ https://www.ncbi.nlm.nih.gov/pubmed/31781369 http://dx.doi.org/10.1155/2019/1424928

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