NCF1 (p47(phox))–deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

Mutations in NCF1 (p47(phox)) cause autosomal recessive chronic granulomatous disease (CGD) with abnormal dihydrorhodamine (DHR) assay and absent p47(phox) protein. Genetic identification of NCF1 mutations is complicated by adjacent highly conserved (>98%) pseudogenes (NCF1B and NCF1C). NCF1 has...

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Bibliografske podrobnosti
izdano v:Blood Adv
Main Authors: Kuhns, Douglas B., Hsu, Amy P., Sun, David, Lau, Karen, Fink, Danielle, Griffith, Paul, Huang, Da Wei, Priel, Debra A. Long, Mendez, Laura, Kreuzburg, Samantha, Zerbe, Christa S., De Ravin, Suk See, Malech, Harry L., Holland, Steven M., Wu, Xiaolin, Gallin, John I.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2019
Teme:
Phagocytes, Granulocytes, and Myelopoiesis
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341190/
https://ncbi.nlm.nih.gov/pubmed/30651282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2018023184
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