Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
Soejima
H
H
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
Fujimoto
M
M
Tsukamoto
K
K
Matsumoto
N
N
Yoshiura
K I
KI
Fukushima
Y
Y
Jinno
Y
Y
Niikawa
N
N
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*
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