Mutational analysis of patients with p47-phox–deficient chronic granulomatous disease

Conclusions Although detection of only ΔGT sequence accounts for over 85% of affected patients, the molecular basis is most likely due to partial cross-over events between the wild-type and pseudogene(s) of p47-phox at different recombination sites. Our results suggest that complete gene conversion or deletion of the p47-phox gene ( NCF1 ) occurs rarely, if it all.