COMBINED SSCP HETERODUPLEX ANALYSIS IN THE SCREENING FOR PAX6 MUTATIONS/

Authors
AXTON RA HANSON IM LOVE J SEAWRIGHT A PROSSER J VANHEYNINGEN V
Citation
Ra. Axton et al., COMBINED SSCP HETERODUPLEX ANALYSIS IN THE SCREENING FOR PAX6 MUTATIONS/, Molecular and cellular probes, 11(4), 1997, pp. 287-292
Citations number
17
Categorie Soggetti
Cell Biology",Biology,"Biochemical Research Methods
Journal title
Molecular and cellular probes → ACNP
ISSN journal
08908508
Volume
11
Issue
4
Year of publication
1997
Pages
287 - 292
Database
ISI
SICI code
0890-8508(1997)11:4<287:CSHAIT>2.0.ZU;2-I
Abstract
We demonstrate the use of combined SSCP and heteroduplex analysis in t he 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 aniri dia mutations in PAX6 are also described. (C) 1997 Academic Press Limi ted.