Extended mutational analyses of FGFR1 in osteoglophonic dysplasia

Am J Med Genet A. 2006 Mar 1;140(5):537-9. doi: 10.1002/ajmg.a.31106.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Bone Diseases, Developmental / genetics*
  • Craniosynostoses / genetics
  • Crystallography, X-Ray
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Dwarfism / genetics
  • Humans
  • Models, Molecular
  • Mutation*
  • Mutation, Missense
  • Protein Conformation
  • Receptor, Fibroblast Growth Factor, Type 1 / chemistry
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*

Substances

  • DNA
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1