An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia

We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T617N mutation energetically favors dimerization of the granulocyte colony-stimulating factor (G-CSF) receptor transmembrane domain, and thus, strongly promotes constitutive activation of the receptor a...

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Detalhes bibliográficos
Main Authors: Plo, Isabelle, Zhang, Yanyan, Le Couédic, Jean-Pierre, Nakatake, Mayuka, Boulet, Jean-Michel, Itaya, Miki, Smith, Steven O., Debili, Najet, Constantinescu, Stefan N., Vainchenker, William, Louache, Fawzia, de Botton, Stéphane
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2009
Assuntos:
Brief Definitive Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722170/
https://ncbi.nlm.nih.gov/pubmed/19620628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20090693
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