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 ha...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Cytochrome b Group
- DNA, Complementary
- Electron Transport
- Exons
- Female
- Genes
- Granulomatous Disease, Chronic