Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

BACKGROUND: Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge. METHODS: In this study, we tested a three-generation Chinese family...

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Detalles Bibliográficos
Autores principales: Min, Han-Yi, Qiao, Peng-Peng, Asan, Yan, Zhi-Hui, Jiang, Hui-Feng, Zhu, Ya-Ping, Du, Hui-Qian, Li, Qin, Wang, Jia-Wei, Zhang, Jie, Sun, Jun, Yi, Xin, Yang, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819309/
https://www.ncbi.nlm.nih.gov/pubmed/26996484
http://dx.doi.org/10.4103/0366-6999.178966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819309/
https://www.ncbi.nlm.nih.gov/pubmed/26996484
http://dx.doi.org/10.4103/0366-6999.178966

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