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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2019
Assuntos:
Phagocytes, Granulocytes, and Myelopoiesis
Acesso em linha: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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