Identification and Functional Analysis of GJA8 Mutation in a Chinese Family with Autosomal Dominant Perinuclear Cataracts

Congenital cataract is a clinically and genetically heterogeneous group of eye disorders that causes visual impairment and childhood blindness. The purpose of this study was to identify the genetic defect associated with autosomal dominant congenital perinuclear cataract in a Chinese family. A detai...

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Detalles Bibliográficos
Autores principales: Su, Dongmei, Yang, Zhenfei, Li, Qian, Guan, Lina, Zhang, Huiling, E, Dandan, Zhang, Lei, Zhu, Siquan, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612055/
https://www.ncbi.nlm.nih.gov/pubmed/23555834
http://dx.doi.org/10.1371/journal.pone.0059926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612055/
https://www.ncbi.nlm.nih.gov/pubmed/23555834
http://dx.doi.org/10.1371/journal.pone.0059926

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