A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

Hum Mol Genet. 1993 Sep;2(9):1487-8. doi: 10.1093/hmg/2.9.1487.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA / genetics
  • DNA-Binding Proteins / genetics*
  • Female
  • Frameshift Mutation*
  • Genes, Homeobox*
  • Humans
  • Male
  • Molecular Sequence Data
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors
  • Pedigree
  • Phenotype
  • 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