๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Fibroblast Growth Factor Receptor 3 Mutations in Achondroplasia and Related Forms of Dwarfism

โœ Scribed by William A. Horton; Gregory P. Lunstrum

Book ID
110401738
Publisher
Springer
Year
2002
Tongue
English
Weight
320 KB
Volume
3
Category
Article
ISSN
1389-9155

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Common mutations in the fibroblast growt
Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
โœ Bonaventure, J.; Rousseau, F.; Legeai-Mallet, L.; Le Merrer, M.; Munnich, A.; Ma ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB ๐Ÿ‘ 2 views

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

Mutations in the fibroblast growth facto
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data
โœ Tsai, Fuu-Jen; Tsai, Chang-Hai; Chang, Jan-Gowth; Wu, Jer-Yuarn ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 7 KB ๐Ÿ‘ 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