A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree

Pathology. 2010 Jan;42(1):91-3. doi: 10.3109/00313020903434694.
No abstract available

Publication types

  • Letter

MeSH terms

  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Exostoses, Multiple Hereditary / genetics*
  • Exostosin 1
  • Family Health
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • N-Acetylglucosaminyltransferases / genetics*
  • Pedigree

Substances

  • N-Acetylglucosaminyltransferases
  • Exostosin 1