A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family

AIM: To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS: The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Wu, Meng-Han, Yu, Yin-Hui, Hao, Qin-Long, Gong, Xiao-Hua, Yao, Ke
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2017
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5225341/
https://ncbi.nlm.nih.gov/pubmed/28149769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2017.01.01
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