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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Hlavní autoři: Zhou, Zhou, Hu, Shanshan, Wang, Binbin, Zhou, Nan, Zhou, Shiyi, Ma, Xu, Qi, Yanhua
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2861125/
https://ncbi.nlm.nih.gov/pubmed/20431721
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