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A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

The superoxide-forming NADPH oxidase of human phagocytes is composed of membrane-bound and cytosolic proteins which, upon cell activation, assemble on the plasma membrane to form the active enzyme. Patients suffering from chronic granulomatous disease (CGD) are defective in one of the following comp...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Clin Invest
Hauptverfasser: Leusen, J H, de Boer, M, Bolscher, B G, Hilarius, P M, Weening, R S, Ochs, H D, Roos, D, Verhoeven, A J
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1994
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294341/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8182143/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117207
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