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

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 wer...

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Bibliographic Details
Main Authors:	Meng-Han Wu, Yin-Hui Yu, Qin-Long Hao, Xiao-Hua Gong, Ke Yao
Format:	Article
Language:	English
Published:	Press of International Journal of Ophthalmology (IJO PRESS) 2017-01-01
Series:	International Journal of Ophthalmology
Subjects:	splice site mutation congenital cataract CRYBA3/A1 gene
Online Access:	http://www.ijo.cn/en_publish/2017/1/20170101.pdf

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