Article
Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.
Biochimica et biophysica acta - 1 Oct 2013
Hayrapetyan Astghik, Dencher Paula C D, van Leeuwen Karin, de Boer Martin, Roos Dirk
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare congenital disorder in which phagocytes cannot generate superoxide (O2(-)) and other microbicidal oxidants due to mutations in one of the five components of the O2(-)-generating NADPH oxidase complex. The most common autosomal subtype of CGD is caused by mutations in NCF1, encoding the NADPH subunit p47(phox). Usually, these mutations are the result of unequal...
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