Focus on FOCIS : the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease
Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, and gp91-phox subunits. CGD usually presents in early childhood w...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 128(2008), 2 vom: 31. Aug., Seite 117-26
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| 1. Verfasser: |
Yu, Grace
(VerfasserIn) |
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| Weitere Verfasser: |
Hong, David K,
Dionis, Kira Y,
Rae, Julie,
Heyworth, Paul G,
Curnutte, John T,
Lewis, David B |
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| Format: | Online-Aufsatz
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| Sprache: | English |
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| Veröffentlicht: |
2008
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| Zugriff auf das übergeordnete Werk: | Clinical immunology (Orlando, Fla.)
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| Schlagworte: | Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Phosphoproteins
neutrophil cytosol factor 67K
NADPH Oxidases
EC 1.6.3.-
NCF2 protein, human
EC 1.6.3.1 |
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