Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia
✍ Scribed by G Grigelioniené; O Eklöf; E Laurencikas; B Ollars; NT Hertel; JP Dumanski; L Hagenäs
- Book ID
- 114812681
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 487 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0803-5253
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📜 SIMILAR VOLUMES
Hypochondroplasia and achondroplasia are skeletal dysplasias, characterised by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hy
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