Article
Splice site mutations are a common cause of X-linked chronic granulomatous disease.
Blood - 15 Sept 1992
de Boer M, Bolscher B G, Dinauer M C, Orkin S H, Smith C I, Ahlin A, Weening R S, Roos D
Abstract excerpt
Chronic granulomatous disease (CGD) is characterized by the absence of a respiratory burst in activated phagocytes. 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). We studied the molecular defect in four patients with X-linked CGD. In a fifth family, we studied the mother of a patient with...
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