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Novel Diagnostic Tool for p47(phox)-Deficient Chronic Granulomatous Disease Patient and Carrier Detection

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations of the phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. Autosomal recessive p47(phox)-deficient CGD (p47(phox) CGD) is the second most frequent form of the disease in western countries, and m...

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Detalles Bibliográficos
Autores principales: Wrona, Dominik, Siler, Ulrich, Reichenbach, Janine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395829/
https://www.ncbi.nlm.nih.gov/pubmed/30859112
http://dx.doi.org/10.1016/j.omtm.2019.02.001