Article
Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Investigative ophthalmology & visual science - 1 Oct 2004
Santhiya Sathiyavedu T, Manisastry Shyam Manohar, Rawlley Deepika, Malathi Raghunathan, Anishetty Sharmila, Gopinath Puthiya M, Vijayalakshmi Perumalsamy, Namperumalsamy Perumalsamy, Adamski Jerzy, Graw Jochen
Abstract excerpt
PURPOSE: To study some functional candidate genes in cataract families of Indian descent. METHODS: Nine Indian families, clinically documented to have congenital/childhood cataracts, were screened for mutations in candidate genes such as CRYG (A-->D), CRYBB2, and GJA8 by PCR analyses and sequencing. Genomic DNA samples of either probands or any representative affected member of each family were PCR amplified and...
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