Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family

PURPOSE: To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). METHODS: One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous bl...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaohui, Wang, Lina, Wang, Jun, Dong, Bing, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272055/
https://www.ncbi.nlm.nih.gov/pubmed/22312188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272055/
https://www.ncbi.nlm.nih.gov/pubmed/22312188

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