Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

Hum Mutat. 1997;9(2):177-80. doi: 10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Inversion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2
  • Cosmids
  • DNA / analysis
  • DNA-Binding Proteins / genetics*
  • Exons
  • Humans
  • Mutation* / genetics
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Transcription Factors*
  • Waardenburg Syndrome / genetics*

Substances

  • DNA-Binding Proteins
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • Paired Box Transcription Factors
  • Transcription Factors
  • Pax3 protein, mouse
  • DNA