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Article

Unpaired Extracellular Cysteine Mutations of CSF3R Mediate Gain or Loss of Function.

Cancer research - 15 Aug 2017

Zhang Haijiao, Means Sophie, Schultz Anna Reister, Watanabe-Smith Kevin, Medeiros Bruno C, Bottomly Daniel, Wilmot Beth, McWeeney Shannon K, Kükenshöner Tim, Hantschel Oliver, Tyner Jeffrey W

Abstract excerpt

Exclusive of membrane-proximal mutations seen commonly in chronic neutrophilic leukemia (e.g., T618I), functionally defective mutations in the extracellular domain of the G-CSF receptor (CSF3R) have been reported only in severe congenital and idiopathic neutropenia patients. Here, we describe the first activating mutation in the fibronectin-like type III domain of the extracellular region of CSF3R (W341C) in a...

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Identifiers

PMID: 28652245
DOI: 10.1158/0008-5472.CAN-17-1052
PMCID: PMC5763920

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