Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

Clin Biochem. 2003 Mar;36(2):151-3. doi: 10.1016/s0009-9120(02)00441-1.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Fibroblast Growth Factors / genetics
  • Humans
  • Mutation, Missense*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Thanatophoric Dysplasia / diagnosis*
  • Thanatophoric Dysplasia / genetics*

Substances

  • Receptors, Fibroblast Growth Factor
  • Fibroblast Growth Factors
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3