Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations
- PMID: 9281415
- DOI: 10.1006/mcpr.1997.0117
Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations
Abstract
We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..
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