Article
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.
BMC ophthalmology - 27 Jun 2006
Neethirajan Guruswamy, Nallathambi Jeyabalan, Krishnadas Subbaiah Ramasamy, Vijayalakshmi Perumalsamy, Shashikanth Shetty, Collinson Jon Martin, Sundaresan Periasamy
Abstract excerpt
BACKGROUND: Haploinsufficiency at the PAX6 locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision. This study was performed to identify novel PAX6 mutations that lead to familial aniridia in Indian patients. METHODS: Genomic DNA was isolated from affected individuals (clinically diagnosed aniridia) from...
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