Article
A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.
Molecular vision - 4 Jun 2007
Guleria Kamlesh, Vanita Vanita, Singh Daljit, Singh Jai Rup
Abstract excerpt
PURPOSE: To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin. METHODS: Seven Indian families with congenital cataract were analyzed by detailed family history and clinical evaluation. Each family had two to five affected members. Mutation screening was carried out in the candidate gene, connexin 46 (GJA3), using bidirectional sequencing of...
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