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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...

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Bibliografiske detaljer
Udgivet i:J Clin Invest
Principais autores: 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
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1994
Fag:
Online adgang: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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