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Severe congenital neutropenia and the unfolded protein response

1 Jan 2008

Abstract excerpt

PURPOSE OF REVIEW: Severe congenital neutropenia is an inborn disorder of granulopoiesis. Mutations of ELA2, encoding neutrophil elastase, are present in approximately 50% of cases of severe congenital neutropenia and nearly all cases of cyclic neutropenia, a related disorder of granulopoiesis. Herein, we review recent studies of the molecular pathogenesis of severe congenital neutropenia, with an emphasis on...

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PMID: 18043239
DOI: 10.1097/moh.0b013e3282f13cd2

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