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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Detalles Bibliográficos
Autores principales: Shen, Chao, Wang, Jingbing, Wu, Xiaotang, Wang, Fuchao, Liu, Yang, Guo, Xiaoying, Zhang, Lina, Cao, Yanfei, Cao, Xiuhua, Ma, Hongxing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437554/
https://www.ncbi.nlm.nih.gov/pubmed/28526010
http://dx.doi.org/10.1186/s12886-017-0476-5

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