Article
Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.
Human mutation - 1 Sept 2008
Kannengiesser Caroline, Gérard Bénédicte, El Benna Jamel, Henri Dominique, Kroviarski Yolande, Chollet-Martin Sylvie, Gougerot-Pocidalo Marie-Anne, Elbim Carole, Grandchamp Bernard
Abstract excerpt
Chronic granulomatous disease (CGD) results from constitutional inactivating mutations in the CYBB, NCF1, CYBA or NCF2 genes that encode subunits of phagocyte NADPH oxidase. We report the findings of molecular analysis of 80 kindred. In 75 unrelated male and 5 female probands, CGD was suspected on the basis of clinical symptoms, and biological samples were referred to our laboratory between 2000 and 2007. Seventy...
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