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Alu repeat-induced deletions in chronic granulomatous disease: a cause not only for p67-phox, but also for p47-phox deficiency

✍ Scribed by Stefan Winkler, Karin van Leeuwen, Martin deBoer…


Book ID
120775733
Publisher
Springer
Year
2012
Tongue
English
Weight
88 KB
Volume
92
Category
Article
ISSN
0939-5555

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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