Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic diagnoses of inherited diseases. In the present...

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Detalles Bibliográficos
Autores principales: Yao, Yihua, Zheng, Xuedong, Ge, Xianglian, Xiu, Yanghui, Zhang, Liu, Fang, Weifang, Zhao, Junzhao, Gu, Feng, Zhu, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587237/
https://www.ncbi.nlm.nih.gov/pubmed/28877251
http://dx.doi.org/10.1371/journal.pone.0184440

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587237/
https://www.ncbi.nlm.nih.gov/pubmed/28877251
http://dx.doi.org/10.1371/journal.pone.0184440

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