title: Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Soejima
authors.forename: M
authors.initials: M
authors.lastname: Fujimoto
authors.forename: K
authors.initials: K
authors.lastname: Tsukamoto
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: K I
authors.initials: KI
authors.lastname: Yoshiura
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Y
authors.initials: Y
authors.lastname: Jinno
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003360:Cosmids; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D006801:Humans; D009154:Mutation / Q000235:genetics; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; 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; D004247:DNA