Article
A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease.
Blood - 1 Jun 1995
Azuma H, Oomi H, Sasaki K, Kawabata I, Sakaino T, Koyano S, Suzutani T, Nunoi H, Okuno A
Abstract excerpt
We have previously reported a patient with cytochrome b-positive X-linked chronic granulomatous disease. Although the O2- production of neutrophils from the patient was completely defective, we presented data suggesting that the patient's cytochrome b was present at a normal level and possibly had normal spectroscopic features. Thus, to look for a mutation in the cytochrome b heavy chain (gp91-phox) gene, DNA...
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