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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Bibliografiset tiedot
Julkaisussa:Blood Adv
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Hematology 2019
Aiheet:
Phagocytes, Granulocytes, and Myelopoiesis
Linkit: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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