A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Arginine / genetics
  • Cleidocranial Dysplasia / genetics*
  • Core Binding Factor Alpha 1 Subunit
  • Humans
  • Italien
  • Mutation, Missense / genetics*
  • Neoplasm Proteins*
  • Transcription Factors / genetics*
  • Tryptophan / genetics

Substances

  • Core Binding Factor Alpha 1 Subunit
  • Neoplasm Proteins
  • Transcription Factors
  • Tryptophan
  • Arginine