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 muta...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cell Membrane
- Cloning, Molecular
- Cytochrome b Group
- Cytosol
- DNA
- Female
- Granulomatous Disease, Chronic
- Humans
- Kinetics
- Macromolecular Substances