Article
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
Nature genetics - 1 Jun 1996
Naski M C, Wang Q, Xu J, Ornitz D M
Abstract excerpt
The longitudinal growth of the skeleton arises from the continuous process of endochondral ossification occurring at the ends of growing long bones. Dwarfism results when this process is disrupted, as in the autosomal dominant human skeletal diseases hypochondroplasia (HCH), achondroplasia (ACH)...
Topics
- 3T3 Cells
- Achondroplasia
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Western
- Cell Division
- Gene Expression Regulation
- Humans
- Mice
- Molecular Sequence Data
- Mutation