Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nitish Niphadkar"'
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34808 (2012)
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively. Here we study the effect of the
Externí odkaz:
https://doaj.org/article/9323a08c1c1a444fb4c94d7e3cc6008c
Autor:
Nitish Niphadkar
Publikováno v:
Biophysical Journal. 100:419a
Fibroblast Growth Factor Receptor 3 (FGFR3) plays an important role in signal transduction. The disturbance of its activation leads to pathologies, including genetic disorders such as Achondroplasia. A point mutation in FGFR3, G346E, was found to cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d1ce0a31d87fee32a7a24f47954623
https://doi.org/10.1016/j.bpj.2010.12.2480
https://doi.org/10.1016/j.bpj.2010.12.2480