𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel missense mutation Ile538Val in t
✍ G Grigelioniené; L Hagenäs; O Eklöf; L Neumeyer; PE Haereid; M Anvret 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 2 views

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

Mutations in the fibroblast growth facto
✍ Tsai, Fuu-Jen; Tsai, Chang-Hai; Chang, Jan-Gowth; Wu, Jer-Yuarn 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

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