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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329527/ https://www.ncbi.nlm.nih.gov/pubmed/22529939 http://dx.doi.org/10.1371/journal.pone.0034808 |