Article
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
American journal of human genetics - 1 Nov 1992
de Boer M, de Klein A, Hossle J P, Seger R, Corbeel L, Weening R S, Roos D
Abstract excerpt
Chronic granulomatous disease (CGD) is characterized by the failure of activated phagocytes to generate superoxide. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox). Patients with a rare autosomal recessive form of CGD have mutations in the gene for the alpha-subunit of this cytochrome...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cytochrome b Group
- Female
- Genes, Recessive
- Granulomatous Disease, Chronic
- Humans
- Male
- Molecular Sequence Data