An R223P mutation in EXT2 gene causes hereditary multiple exostoses

Hum Mutat. 2000 Apr;15(4):390-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Arginine
  • Asian People
  • China
  • Chromosomes, Human, Pair 11 / genetics
  • DNA Mutational Analysis
  • Exostoses, Multiple Hereditary / diagnosis
  • Exostoses, Multiple Hereditary / genetics*
  • Exostosin 2
  • Female
  • Genes, Dominant / genetics
  • Humans
  • Mutation, Missense / genetics*
  • N-Acetylglucosaminyltransferases*
  • Proline
  • Proteins / genetics*
  • Taiwan

Substances

  • Proteins
  • Arginine
  • Proline
  • N-Acetylglucosaminyltransferases
  • Exostosin 2