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

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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Bibliographic Details
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
Format: Online
Language:English
Published: The Rockefeller University Press 2009
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722170/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722170/

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