Associated Papers
Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.
Oiuna L et al.
Cytometry. Part B, Clinical Cytometry, 2026
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel C et al.
Journal of Clinical Immunology, 2012
Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.
Di Matteo G et al.
Molecular Immunology, 2009
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
Gérard B et al.
Human Mutation, 2001
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