Article
X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
American journal of human genetics - 1 Jun 1998
Rae J, Newburger P E, Dinauer M C, Noack D, Hopkins P J, Kuruto R, Curnutte J T
Abstract excerpt
Chronic granulomatous disease (CGD) is a hereditary disorder of host defense due to absent or decreased activity of phagocyte NADPH oxidase. The X-linked form of the disease derives from defects in the CYBB gene, which encodes the 91-kD glycoprotein component (termed "gp91-phox") of the oxidase....
Topics
- DNA Mutational Analysis
- Genetic Linkage
- Granulomatous Disease, Chronic
- Humans
- Membrane Glycoproteins
- Molecular Sequence Data
- Mutation
- NADPH Oxidase 2
- NADPH Oxidases
- Polymorphism, Single-Stranded Conformational
- Respiratory Burst
- X Chromosome