Article
A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b.
The Journal of biological chemistry - 7 Apr 1995
Cross A R, Heyworth P G, Rae J, Curnutte J T
Abstract excerpt
Genetic analysis of a patient with the variant cytochrome b-245-positive form of chronic granulomatous disease revealed a missense mutation resulting in a Arg54-->Ser substitution in the gp91phox subunit of cytochrome b-245. As a consequence, although no O2- is made, NADPH oxidase-associated FAD accepts electrons from NADPH in the cell-free activation system and becomes reduced. The reduced flavin exhibits normal...
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