Article
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.
Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 1991
Dinauer M C, Pierce E A, Erickson R W, Muhlebach T J, Messner H, Orkin S H, Seger R A, Curnutte J T
Abstract excerpt
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 mutation in one of these components, the p22-phox subunit of the neutrophil membrane cytochrome b [where phox indicates...
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