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A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree

PURPOSE: To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts. METHODS: A three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical examin...

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Detalles Bibliográficos
Autores principales:	Ding, Xuchen, Wang, Binbin, Luo, Yongfeng, Hu, Shanshan, Zhou, Guangkai, Zhou, Zhou, Wang, Jing, Ma, Xu, Qi, Yanhua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107996/ https://www.ncbi.nlm.nih.gov/pubmed/21647269

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