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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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Bibliografische gegevens
Hoofdauteurs: Chen, Fenghao, Sarabipour, Sarvenaz, Hristova, Kalina
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2013
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3577887/
https://ncbi.nlm.nih.gov/pubmed/23437153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0056521
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