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Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations
R A Axton1, I M Hanson, J Love
1Human Genetics Unit, Medical Research Council, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, Scotland.
Molecular and Cellular Probes
|August 1, 1997
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..