Article
PAX6 gene variations associated with aniridia in south India.
BMC medical genetics - 16 Apr 2004
Neethirajan Guruswamy, Krishnadas Subbaiah Ramasamy, Vijayalakshmi Perumalsamy, Shashikant Shetty, Sundaresan Periasamy
Abstract excerpt
BACKGROUND: Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south Indian population. METHODS: Total genomic DNA was isolated from peripheral blood of twenty-eight members of six clinically diagnosed aniridia families and 60 normal healthy controls. The coding...
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