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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Detalhes bibliográficos
Publicado no:J Ophthalmol
Main Authors: Zhou, Yu, Zhai, Yaru, Huang, Lulin, Gong, Bo, Li, Jie, Hao, Fang, Wu, Zhengzheng, Shi, Yi, Yang, Yin
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5153472/
https://ncbi.nlm.nih.gov/pubmed/28025620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/4353957
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