Article
Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.
Acta paediatrica Japonica : Overseas edition - 1 Aug 1998
Yang S W, Kitoh H, Yamada Y, Goto H, Ogasawara N
Abstract excerpt
BACKGROUND: Achondroplasia (ACH) is the most common form of osteochondrodysplasia, and is mostly associated with a point mutation in the gene on the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. METHODS: We investigated the mutations in the gene encoding F...
Topics
- Achondroplasia
- Asian People
- Child
- Fibroblast Growth Factors
- Genetic Code
- Humans
- Korea
- Mutation
- Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor