A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm

We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2(V617F) Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a ligand-independent covalent receptor dimer, associated...

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Detalles Bibliográficos
Autores principales: Casolari, D. A., Nguyen, T., Butcher, C. M., Iarossi, D. G., Hahn, C. N., Bray, S. C., Neufing, P., Parker, W. T., Feng, J., Maung, K. Z. Y., Wee, A., Vidovic, L., Kok, C. H., Bardy, P. G., Branford, S., Lewis, I. D., Lane, S. W., Scott, H. S., Ross, D. M., D’Andrea, R. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446393/
https://www.ncbi.nlm.nih.gov/pubmed/28550306
http://dx.doi.org/10.1038/s41598-017-02655-7

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