An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia
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چکیده
منابع مشابه
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 and hypersensitivity to G-CSF for proliferation and differentiation, which ultimately leads to chr...
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ژورنال
عنوان ژورنال: Journal of Experimental Medicine
سال: 2009
ISSN: 1540-9538,0022-1007
DOI: 10.1084/jem.20090693