A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family

PURPOSE: To identify the potential pathogenic mutation over five generations of a Chinese family with congenital Coppock-like cataracts (CCL). METHODS: We investigated five generations of a Chinese family affected with CCL. The family resides in a relatively isolated region of northern China. Periph...

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Detalles Bibliográficos
Autores principales: Zhang, Lu, Qu, Xin, Su, Sheng, Guan, Linan, Liu, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413429/
https://www.ncbi.nlm.nih.gov/pubmed/22876138

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