Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

Mutations in more than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathologic mechanisms of most genetic defects are not fully defined. Deficiency of G6PC3, a glucose-6-phosphatase, causes a rare multisystem syndrome with SCN first described in 2009. We identifi...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: McDermott, David H., De Ravin, Suk See, Jun, Hyun Sik, Liu, Qian, Priel, Debra A. Long, Noel, Pierre, Takemoto, Clifford M., Ojode, Teresa, Paul, Scott M., Dunsmore, Kimberly P., Hilligoss, Dianne, Marquesen, Martha, Ulrick, Jean, Kuhns, Douglas B., Chou, Janice Y., Malech, Harry L., Murphy, Philip M.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2010
Matèries:
Phagocytes, Granulocytes, and Myelopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2974587/
https://ncbi.nlm.nih.gov/pubmed/20616219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-01-265942
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars