Article
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
Biochemical and biophysical research communications - 3 Oct 1996
Pokharel R K, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, Onishi S, Matsuo M
Abstract excerpt
Type I thanatophoric dysplasia (TD) is typically a lethal neonatal dwarfism, but a limited number of cases of type I TD cases survive more than one year, suggesting genetic heterogeneity. In this study, we analyzed the fibroblast growth factor receptor 3 (FGFR3) gene in 5 Japanese cases of type I...
Topics
- Cell Line
- Child
- Child, Preschool
- Cytidine
- Genes, Lethal
- Genetic Heterogeneity
- Humans
- Japan
- Mutation
- Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor
- Thanatophoric Dysplasia
- Thymine