Article
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
Molecular vision - 23 Mar 2006
Devi Ramachandran Ramya, Vijayalakshmi Perumalsamy
Abstract excerpt
PURPOSE: The purpose of this study was to estimate the importance of mutations in the connexin50 gene (GJA8) as a cause of congenital or developmental cataracts in the Indian population and to identify novel mutations in GJA8 that cause cataract in this population. METHODS: The coding region of GJA8 was analyzed for mutation by single strand conformational polymorphism in 60 probands affected with congenital or...
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