Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Hum Mol Genet. 1995 Nov;4(11):2175-7. doi: 10.1093/hmg/4.11.2175.
No abstract available

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Composition
  • Base Sequence
  • Binding Sites
  • Cysteine / genetics
  • DNA
  • Humans
  • Molecular Sequence Data
  • Point Mutation*
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Thanatophoric Dysplasia / genetics*

Substances

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