In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). Other conditions soon followed, w
Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
โ Scribed by MR Almeida; AB Campos-Xavier; A Medeira; I Cordeiro; AB Sousa; M Lima; G Soares; M Rocha; J Saraiva; L Ramos; S Sousa; JP Marcelino; A Correia; HG Santos
- Book ID
- 110888727
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 207 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0009-9163
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Identification of FGFR3 mutations in 28 achondroplasia patients, in 10 of 18 cases of hypochodroplasia and in both cases with type I TD, is reported here. To detect mutations of achondroplasia, both natural restriction site and amplification created restriction site (ACRS) were utilized. Mutation 11
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 disorde