Characterization of 11 novel mutations i
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BΓ©nΓ©dicte GΓ©rard; Jamel El Benna; FranΓ§oise Alcain; Marie-Anne Gougerot-Pocidalo
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Article
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2001
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John Wiley and Sons
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English
β 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.