Article
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
Human molecular genetics - 1 Sept 1998
Anderson J, Burns H D, Enriquez-Harris P, Wilkie A O, Heath J K
Abstract excerpt
Dominantly acting mutations of the fibroblast growth factor (FGF) receptor 2 (FGFR2) gene have been implicated in various craniosynostosis syndromes. Apert syndrome, characterized in addition by syndactyly of the limbs, involves specific mutations at two adjacent residues, Ser252Trp and Pro253Arg...
Topics
- Acrocephalosyndactylia
- Biosensing Techniques
- Fibroblast Growth Factors
- Humans
- In Vitro Techniques
- Kinetics
- Ligands
- Mutagenesis, Site-Directed
- Phenotype
- Point Mutation
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor
- Recombinant Proteins