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...

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Main Authors: 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.
格式: Artigo
語言:Inglês
出版: American Society of Hematology 2010
主題:
Phagocytes, Granulocytes, and Myelopoiesis
在線閱讀: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
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