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A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family

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Bibliographic Details
Published in:	Human molecular genetics 1994-01, Vol.3 (1), p.197-198
Main Authors:	Butt, Jennifer, Greenberg, Jacquie, Winship, Ingrid, Sellars, Sean, Beighton, Peter, Ramesar, Rajkumar
Format:	Article
Language:	English
Subjects:	Base Sequence Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 2 Complex syndromes Conserved Sequence DNA-Binding Proteins - genetics Exons Female genes Humans Introns Male man Medical genetics Medical sciences Molecular Sequence Data mutation Paired Box Transcription Factors PAX3 gene PAX3 Transcription Factor Pedigree Point Mutation Polymerase Chain Reaction South Africa splicing Transcription Factors Waardenburg Syndrome - genetics Wardenburg's syndrome
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