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Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.

Chronic granulomatous disease (CGD) is a congenital disorder in which phagocytes cannot generate superoxide (O2-) and other microbial oxidants due to mutations in any one of four components of the O2(-)-generating complex, NADPH oxidase. We report here a female CGD patient in whom a missense mutatio...

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Bibliografische gegevens
Hoofdauteurs: Dinauer, M C, Pierce, E A, Erickson, R W, Muhlebach, T J, Messner, H, Orkin, S H, Seger, R A, Curnutte, J T
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1991
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC53108/
https://ncbi.nlm.nih.gov/pubmed/1763037
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