Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia

Chin Med J (Engl). 2007 Jun 5;120(11):1017-9.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achondroplasia / genetics*
  • Adult
  • Amino Acid Sequence
  • Genes, Dominant
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Receptor, Fibroblast Growth Factor, Type 3 / chemistry
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*
  • Receptor, Fibroblast Growth Factor, Type 3 / physiology

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3