A novel mutation in EROS (CYBC1) causes chronic granulomatous disease
Paige M Mortimer, Esme Nichols, Joe Thomas, Rachna Shanbhag, Neha Singh, Eve L. Coomber, Talat H. Malik, Matthew C. Pickering, Lyra O. Randzavola, William Rae, Sagar Bhattad, David Thomas
Topics & Concepts
Chronic granulomatous diseasePhagocyteNADPH oxidaseBiologyMutationP22phoxFrameshift mutationImmunologyOxidase testGeneticsGeneReactive oxygen speciesImmune systemEnzymeBiochemistryNeutrophil, Myeloperoxidase and Oxidative MechanismsImmune Response and Inflammation