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Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells

19 Jul 2015

Abstract excerpt

Severe congenital neutropenia (SCN) is often associated with inherited heterozygous point mutations in ELANE, which encodes neutrophil elastase (NE). However, a lack of appropriate models to recapitulate SCN has substantially hampered the understanding of the genetic etiology and pathobiology of this disease. To this end, we generated both normal and SCN patient-derived induced pluripotent stem cells (iPSCs), and...

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PMID: 26193632
DOI: 10.1172/jci80924

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Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsPMID 26193632Read ↗

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