Alu-repeat–induced deletions within the
✍
Marcus Gentsch; Aneta Kaczmarczyk; Karin van Leeuwen; Martin de Boer; Magdalena
📂
Article
📅
2010
🏛
John Wiley and Sons
🌐
English
⚖ 376 KB
Mutations that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous inflammation. In five CGD patients from four consanguineous families of