title: A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.
authors.affiliation: MRC Research Unit, University of Cape Town Medical School, Observatory, South Africa.
authors.forename: J
authors.initials: J
authors.lastname: Butt
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: I
authors.initials: I
authors.lastname: Winship
authors.forename: S
authors.initials: S
authors.lastname: Sellars
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D017124:Conserved Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013019:South Africa; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse