Article
Origin of mutations in two families with X-linked chronic granulomatous disease.
Blood - 1 Aug 1990
Francke U, Ochs H D, Darras B T, Swaroop A
Abstract excerpt
The most common X-linked recessive form of chronic granulomatous disease (X-CGD) is characterized by the absence of cytochrome b558 in neutrophils. In a rare variant form of X-CGD, cytochrome b558 is present but not functional. The gene (locus symbol CYBB) was localized to band Xp21 by studies of patients with small chromosome deletions. The gene was cloned based on its location and found to encode the 91-Kd...
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