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
An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)
โ Scribed by Camera, Gianni; Baldi, Maurizia; Baffico, Maria; Pozzolo, Silvano
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 5 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970711)71:1<122::aid-ajmg22>3.0.co;2-n
No coin nor oath required. For personal study only.
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