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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861125/
https://www.ncbi.nlm.nih.gov/pubmed/20431721

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