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Article

Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein response

16 Apr 2020

Abstract excerpt

Severe congenital neutropenia (SCN) is characterized by a near absence of neutrophils, rendering individuals with this disorder vulnerable to recurrent life-threatening infections. The majority of SCN cases arise because of germline mutations in the gene elastase, neutrophil-expressed ( ELANE ) encoding the neutrophil granule serine protease neutrophil elastase. Treatment with a high dose of granulocyte...

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PMID: 32299910
DOI: 10.1074/jbc.ra120.012366

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