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Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)

PURPOSE: To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract. METHODS: Four patients and three healthy members from the family underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from peripheral blood leukocytes of the...

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Detalles Bibliográficos
Autores principales:	Zhou, Zhou, Hu, Shanshan, Wang, Binbin, Zhou, Nan, Zhou, Shiyi, Ma, Xu, Qi, Yanhua
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2010
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861125/ https://www.ncbi.nlm.nih.gov/pubmed/20431721

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