Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

Hereditary neutropenia is usually caused by heterozygous germline mutations in the ELANE gene encoding neutrophil elastase (NE). How mutations cause disease remains uncertain, but two hypotheses have been proposed. In one, ELANE mutations lead to mislocalization of NE. In the other, ELANE mutations...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Tidwell, Timothy, Wechsler, Jeremy, Nayak, Ramesh C., Trump, Lisa, Salipante, Stephen J., Cheng, Jerry C., Donadieu, Jean, Glaubach, Taly, Corey, Seth J., Grimes, H. Leighton, Lutzko, Carolyn, Cancelas, Jose A., Horwitz, Marshall S.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2014
Matèries:
Phagocytes, Granulocytes, and Myelopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3901069/
https://ncbi.nlm.nih.gov/pubmed/24184683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-07-513242
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars