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CYBB Mutation Analysis in X-Linked Chronic Granulomatous Disease

✍ Scribed by Orathai Jirapongsananuruk; Julie E. Niemela; Harry L. Malech; Thomas A. Fleisher

Book ID
118768541
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
46 KB
Volume
104
Category
Article
ISSN
1090-2341

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πŸ“œ SIMILAR VOLUMES

Characterization of 11 novel mutations i
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)
✍ BΓ©nΓ©dicte GΓ©rard; Jamel El Benna; FranΓ§oise Alcain; Marie-Anne Gougerot-Pocidalo πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 19 KB

The most frequent form of chronic granulomatous disease (CGD) is caused by inactivation of the CYBB gene, which encodes the gp91-phox subunit of phagocyte NADPH oxidase. This defect prevents phagocytes from producing reactive oxygen species and thus from eradicating bacterial and fungal infections.