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Activation of cryptic splice sites in three patients with chronic granulomatous disease

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase. As a result, the patients cannot generate sufficient amounts of reactive oxygen species required for killing pathogenic m...

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Detalles Bibliográficos
Autores principales:	de Boer, Martin, van Leeuwen, Karin, Hauri‐Hohl, Mathias, Roos, Dirk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732321/ https://www.ncbi.nlm.nih.gov/pubmed/31364312 http://dx.doi.org/10.1002/mgg3.854

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