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Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

Chronic granulomatous disease (CGD) is characterized by the failure of activated phagocytes to generate superoxide. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox). Patients wi...

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Autors principals: de Boer, M, de Klein, A, Hossle, J P, Seger, R, Corbeel, L, Weening, R S, Roos, D
Format: Artigo
Idioma:Inglês
Publicat: 1992
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682833/
https://ncbi.nlm.nih.gov/pubmed/1415254
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