Article
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.
Leukemia - 1 Sept 2013
Pardanani A, Lasho T L, Laborde R R, Elliott M, Hanson C A, Knudson R A, Ketterling R P, Maxson J E, Tyner J W, Tefferi A
Abstract excerpt
Truncation mutations of the receptor cytoplasmic domain for colony-stimulating factor 3 (CSF3R) are frequently seen in severe congenital neutropenia, whereas activating missense mutations affecting the extracellular domain (exon 14) have been described in hereditary neutrophilia and chronic neutrophilic leukemia (CNL). In order to clarify mutational frequency, specificity and phenotypic associations, we sequenced...
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