Article
A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b.
The Journal of biological chemistry - 7 Apr 1995
Cross A R, Heyworth P G, Rae J, Curnutte J T
Abstract excerpt
Genetic analysis of a patient with the variant cytochrome b-245-positive form of chronic granulomatous disease revealed a missense mutation resulting in a Arg54-->Ser substitution in the gp91phox subunit of cytochrome b-245. As a consequence, although no O2- is made, NADPH oxidase-associated FAD...
Topics
- Amino Acid Sequence
- Biological Transport
- Cell Membrane
- Cytochrome b Group
- Dihydrolipoamide Dehydrogenase
- Genetic Linkage
- Granulomatous Disease, Chronic
- Humans
- Immunohistochemistry
- Molecular Sequence Data
- Mutation
- NADPH Dehydrogenase
- NADPH Oxidases
- Neutrophils
- Phosphoproteins
- Spectrum Analysis
- X Chromosome