Article
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
American journal of medical genetics - 3 May 1996
Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P
Abstract excerpt
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related diso...
Topics
- Achondroplasia
- Amino Acid Sequence
- Animals
- Base Sequence
- Bone and Bones
- DNA Primers
- Exons
- Fetus
- Fibroblast Growth Factors
- Growth Plate
- Mice
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Polymerase Chain Reaction