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
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia
β Scribed by Tso-Ren Wang; Wen-Pin Wang; Wuh-Liang Hwu; Ming-Liang Lee
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 199 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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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
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina