effect of the g375c and g346e achondroplasia mutations on fgfr3 activationg375c效应和g346e软骨发育不全突变fgfr3激活.pdfVIP

Effect of the G375C and G346E Achondroplasia Mutations on FGFR3 Activation Lijuan He, Christopher Serrano, Nitish Niphadkar, Nadia Shobnam, Kalina Hristova* Department of Materials Science and Engineering, Johns Hopkins University, Baltimore, Maryland, United States of America Abstract 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