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Multiple Consequences of a Single Amino Acid Pathogenic RTK Mutation: The A391E Mutation in FGFR3

The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. Here we investigate the effect of this mutation on FGFR3 activation in HEK 293 T cells over a wide range of fibroblast growth factor 1 concentrations using a physica...

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Detalles Bibliográficos
Autores principales: Chen, Fenghao, Sarabipour, Sarvenaz, Hristova, Kalina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3577887/
https://www.ncbi.nlm.nih.gov/pubmed/23437153
http://dx.doi.org/10.1371/journal.pone.0056521

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