Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB

Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X‐linked CGD (X91‐CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations...

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Publicado no:Clin Exp Immunol
Main Authors: Mollin, M., Beaumel, S., Vigne, B., Brault, J., Roux‐Buisson, N., Rendu, J., Barlogis, V., Catho, G., Dumeril, C., Fouyssac, F., Monnier, D., Gandemer, V., Revest, M., Brion, J.‐P., Bost‐Bru, C., Jeziorski, E., Eitenschenck, L., Jarrasse, C., Drillon Haus, S., Houachée‐Chardin, M., Hancart, M., Michel, G., Bertrand, Y., Plantaz, D., Kelecic, J., Traberg, R., Kainulainen, L., Fauré, J., Fieschi, F., Stasia, M. J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7806450/
https://ncbi.nlm.nih.gov/pubmed/32954498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cei.13520
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