A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1)

Hum Mutat. 1994;4(3):227-8. doi: 10.1002/humu.1380040310.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Deoxyribonucleases, Type II Site-Specific
  • Exons
  • Humans
  • Point Mutation*
  • Polymerase Chain Reaction
  • Waardenburg Syndrome / classification
  • Waardenburg Syndrome / genetics*

Substances

  • endodeoxyribonuclease MnlI
  • Deoxyribonucleases, Type II Site-Specific