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A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaf...

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Detalles Bibliográficos
Autores principales:	Zhou, Yu, Zhai, Yaru, Huang, Lulin, Gong, Bo, Li, Jie, Hao, Fang, Wu, Zhengzheng, Shi, Yi, Yang, Yin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153472/ https://www.ncbi.nlm.nih.gov/pubmed/28025620 http://dx.doi.org/10.1155/2016/4353957

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