Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

Abstract Background Congenital cataract is the most frequent cause of blindness during infancy or early childhood. To date, more than 40 loci associated with congenital cataract have been identified, including at least 26 genes on different chromosomes associated with inherited cataract. This presen...

Full description

Bibliographic Details
Main Authors: Chao Shen, Jingbing Wang, Xiaotang Wu, Fuchao Wang, Yang Liu, Xiaoying Guo, Lina Zhang, Yanfei Cao, Xiuhua Cao, Hongxing Ma
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Ophthalmology
Subjects:
Congenital cataract
GJA8
Whole exome sequencing
Next-generation sequencing
Online Access:http://link.springer.com/article/10.1186/s12886-017-0476-5

Internet

http://link.springer.com/article/10.1186/s12886-017-0476-5

Similar Items