Article
A novel PAX6 gene mutation in an Indian aniridia patient.
Molecular vision - 29 May 2003
Neethirajan Guruswamy, Hanson Isabel M, Krishnadas Subbiah Ramasamy, Vijayalakshmi Perumalsamy, Anupkumar Kesavan, Sundaresan Periasamy
Abstract excerpt
PURPOSE: A mutation in the PAX6 gene is thought to be the genetic cause of aniridia. Here we search for PAX6 gene mutations in Indian aniridia patients. METHODS: We amplified the coding exons of the PAX6 gene from the genomic DNA of 15 unrelated aniridia patients using polymerase chain reaction technology. We then performed single-strand conformation polymorphism analysis and heteroduplex analysis to search for...
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