Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

Antzeko izenburuak

• A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.
  nork: Leusen, J H, et al.
  Argitaratua: (1994)
• Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization.
  nork: Weening, R S, et al.
  Argitaratua: (1985)
• p40(phox) Participates in the activation of NADPH oxidase by increasing the affinity of p47(phox) for flavocytochrome b(558).
  nork: Cross, A R
  Argitaratua: (2000)
• Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.
  nork: Dinauer, M C, et al.
  Argitaratua: (1991)
• A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity
  nork: Matute, Juan D., et al.
  Argitaratua: (2009)