Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes

Mutations in the ELA2 gene encoding neutrophil elastase (NE) are present in most patients with severe congenital neutropenia (SCN). However, the mechanisms by which these mutations cause neutropenia remain unknown. To investigate the effects of mutant NE expression on granulopoiesis, we used the HL-...

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Detalhes bibliográficos
Main Authors: Massullo, Pam, Druhan, Lawrence J., Bunnell, Bruce A., Hunter, Melissa G., Robinson, John M., Marsh, Clay B., Avalos, Belinda R.
Formato: Artigo
Idioma:Inglês
Publicado em: © 2005 by The American Society of Hematology 2005
Assuntos:
Plenary Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895019/
https://ncbi.nlm.nih.gov/pubmed/15657182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2004-07-2618
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