Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families
Casimir, Colin M. and Chetty, M. and Bohler, M.-C. and Garcia, R. and Fischer, A. and Griscelli, C. and Johnson, Barbara and Segal, Anthony W. (1992) Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families. European Journal of Clinical Investigation, 22 (6). pp. 403-406. ISSN 0014-2972
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Official URL: http://dx.doi.org/10.1111/j.1365-2362.1992.tb01481...
Chronic Granulomatous Disease (CGD) manifests as a predisposition to infection as a result of defective function of the NADPH oxidase of phagocytic cells. Proteins identified as part of this system include two subunits of a cytochrome b (cytochrome b-245) and two cytosolic factors. The affected oxidase component was determined in 63 CGD patients from 57 families, by Western blotting of extracts of their neutrophils with antibodies to those proteins. 38 (67%) of the families were X-linked with a defect of the beta subunit of the cytochrome. 13 (23%) lacked p47-phox, 3 (5%) p67-phox, and 3 (5%) the alpha subunit of the cytochrome.
|Research Areas:||School of Science and Technology > Natural Sciences|
School of Science and Technology > Natural Sciences > Molecular Biology group
|Citations on ISI Web of Science:||31|
|Deposited On:||02 Dec 2009 10:08|
|Last Modified:||09 Oct 2014 11:56|
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