Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

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 G375C mutation on the phosphorylation and the cro...

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Bibliographic Details
Main Authors: Lijuan He, Christopher Serrano, Nitish Niphadkar, Nadia Shobnam, Kalina Hristova
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3329527?pdf=render