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

Autor: Leena Kainulainen, M. Hancart, John Rendu, Sylvain Beaumel, Julie Brault, D Plantaz, Bénédicte Vigne, G. Catho, C. Jarrassé, Vincent Barlogis, S. Drillon Haus, Yves Bertrand, Julien Fauré, Eric Jeziorski, M Houachée-Chardin, Virginie Gandemer, M. Revest, Michelle Mollin, Cécile Bost-Bru, Franck Fieschi, Laurence Eitenschenck, J. Kelecic, Marie José Stasia, Gérard Michel, Fanny Fouyssac, R. Traberg, D. Monnier, C. Dumeril, Nathalie Roux-Buisson, J-P Brion

Publikováno v: Clinical and Experimental Immunology
Clinical and Experimental Immunology, Wiley, 2020, ⟨10.1111/cei.13520⟩
Clinical and Experimental Immunology, 2020, ⟨10.1111/cei.13520⟩
Clin Exp Immunol

Summary 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 CYB

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1441a88d0deb5efc535fc77d97e0647f
https://doi.org/10.1111/cei.13520

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