Article
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.
Blood - 1 Jun 1991
Bolscher B G, de Boer M, de Klein A, Weening R S, Roos D
Abstract excerpt
The NADPH:O2 oxidoreductase of phagocytic leukocytes is an important enzyme for the bactericidal activity of these cells. Cytochrome b558 is a membrane component of this enzyme. In X-linked chronic granulomatous disease (Xb- CGD) the phagocytes are defective in the beta-subunit (gp91-phox) of this cytochrome. We have studied the genetic defect in a group of six X-linked CGD patients characterized by complete or...
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