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A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease

✍ Scribed by Deborah Noack; Paul G. Heyworth; John T. Curnutte; Julie Rae; Andrew R. Cross


Book ID
117618427
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
233 KB
Volume
1454
Category
Article
ISSN
0925-4439

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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.