Article
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.
The Journal of clinical investigation - 15 Oct 1997
Görlach A, Lee P L, Roesler J, Hopkins P J, Christensen B, Green E D, Chanock S J, Curnutte J T
Abstract excerpt
The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse population. In each of 34 consecutive unrelated normal individuals, both the normal and mutant DeltaGT sequences were...
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