Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

Blood. 1996 Mar 1;87(5):1663-81.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Base Sequence
  • Cell Membrane / enzymology
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Consensus Sequence
  • Cytochrome b Group / chemistry
  • Cytochrome b Group / deficiency*
  • Cytochrome b Group / genetics
  • Cytoplasmic Granules / enzymology
  • Female
  • Genes, Recessive
  • Genetic Heterogeneity
  • Genetic Therapy
  • Granulomatous Disease, Chronic / classification
  • Granulomatous Disease, Chronic / enzymology
  • Granulomatous Disease, Chronic / genetics*
  • Granulomatous Disease, Chronic / therapy
  • Humans
  • Interferon-gamma / therapeutic use
  • Leukocytes / enzymology
  • Leukocytes / ultrastructure
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins*
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation
  • NADH, NADPH Oxidoreductases / chemistry
  • NADH, NADPH Oxidoreductases / deficiency*
  • NADH, NADPH Oxidoreductases / genetics
  • NADPH Dehydrogenase / genetics*
  • NADPH Oxidase 2
  • NADPH Oxidases
  • Phosphoproteins / genetics*
  • Protein Conformation
  • Recombinant Proteins
  • Sequence Deletion
  • X Chromosome / genetics*

Substances

  • Cytochrome b Group
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Phosphoproteins
  • Recombinant Proteins
  • neutrophil cytosol factor 67K
  • Interferon-gamma
  • cytochrome b558
  • NADH, NADPH Oxidoreductases
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases
  • CYBA protein, human
  • neutrophil cytosolic factor 1
  • NADPH Dehydrogenase