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..
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aniridia / genetics
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DNA-Binding Proteins / genetics*
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Eye Proteins
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Female
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Homeodomain Proteins*
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Humans
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Male
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Mutation*
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Nucleic Acid Heteroduplexes*
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PAX6 Transcription Factor
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Paired Box Transcription Factors
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Pedigree
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Polymorphism, Single-Stranded Conformational*
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Repressor Proteins
Substances
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DNA-Binding Proteins
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Eye Proteins
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Homeodomain Proteins
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Nucleic Acid Heteroduplexes
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PAX6 Transcription Factor
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PAX6 protein, human
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Paired Box Transcription Factors
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Repressor Proteins