Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract

Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract

Background/purpose: A three-generation Chinese family with autosomal dominant congenital nuclear cataract was recruited. This study aimed to identify the disease-causing gene for nuclear cataract with functional dissections of the identified mutant. Methods: Detailed clinical data and family history...

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Bibliographic Details
Main Authors:	Kai Jie Wang, Jin Da Wang, Dou Dou Chen, Ming Yang Wang, Bo Yun, Si Quan Zhu
Format:	Article
Language:	English
Published:	Elsevier 2020-01-01
Series:	Journal of the Formosan Medical Association
Online Access:	http://www.sciencedirect.com/science/article/pii/S0929664618301700

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