Article
PAX6 gene analysis in irido-fundal coloboma.
Molecular vision - 1 Jan 2011
Kumar Kishlay, Tanwar Mukesh, Naithani Prashant, Insaan Rajpal, Garg Satpal, Venkatesh Pradeep, Dada Rima
Abstract excerpt
PURPOSE: To screen the paired box gene 6 (PAX6) gene in irido-fundal coloboma. METHODS: The entire coding region of PAX6 including intron-exon boundaries was amplified from cases (n=30) and controls (n=30). All sequences were analyzed against the ensemble sequence (ENSG00000007372) for PAX6. RESULTS: DNA sequence analysis of patients and controls revealed a total of three nucleotide changes...
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