Article
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
Nature genetics - 1 Sept 2003
Benson Kathleen F, Li Feng-Qian, Person Richard E, Albani Dalila, Duan Zhijun, Wechsler Jeremy, Meade-White Kimberly, Williams Kayleen, Acland Gregory M, Niemeyer Glenn, Lothrop Clinton D, Horwitz Marshall
Abstract excerpt
Cyclic hematopoiesis is a stem cell disease in which the number of neutrophils and other blood cells oscillates in weekly phases. Autosomal dominant mutations of ELA2, encoding the protease neutrophil elastase, found in lysosome-like granules, cause cyclic hematopoiesis and most cases of the pre-leukemic disorder severe congenital neutropenia (SCN; ref. 3) in humans. Over 20 different mutations of neutrophil...
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