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

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 present study...

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Udgivet i:BMC Ophthalmol
Main Authors: Shen, Chao, Wang, Jingbing, Wu, Xiaotang, Wang, Fuchao, Liu, Yang, Guo, Xiaoying, Zhang, Lina, Cao, Yanfei, Cao, Xiuhua, Ma, Hongxing
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437554/
https://ncbi.nlm.nih.gov/pubmed/28526010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-017-0476-5
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