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A Novel Missense Mutation in CYBB gene in Chronic Granulomatous Disease

✍ Scribed by DeMore, J.P.; Dong, Y.; Lewis, D.B.; Gern, J.E.; Seroogy, C.M.


Book ID
121975563
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
51 KB
Volume
119
Category
Article
ISSN
1097-6825

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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.