A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family

PURPOSE: Congenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Patients were given physical examinations and their blood sa...

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Detalles Bibliográficos
Autores principales: Yang, Guoxing, Xing, Baogang, Liu, Guangcai, Lu, Xiangqing, Jia, Xingang, Wang, Xiuli, Yu, Hongyan, Fu, Yanjiang, Zhao, Jialiang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086624/
https://www.ncbi.nlm.nih.gov/pubmed/21552498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086624/
https://www.ncbi.nlm.nih.gov/pubmed/21552498

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