Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.

This publication has 10 references indexed in Scilit:

• Gene-scan method for the recognition of carriers and patients with p47phox-deficient autosomal recessive chronic granulomatous disease
  Experimental Hematology, 2001
• Seven new mutations in the nicotinamide adenine dinucleotide reduced–cytochrome b5 reductase gene leading to methemoglobinemia type I
  Blood, 2001
• Mutational analysis of patients with p47-phox–deficient chronic granulomatous disease
  Experimental Hematology, 2001
• Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in theNCF-1 pseudogenes
  Blood, 2001
• A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.
  Journal of Clinical Investigation, 1997
• Human Gene Mutations Affecting RNA Processing and Translation
  Annals of Medicine, 1993
• Point mutations in the beta-subunit of cytochrome b558 leading to X- linked chronic granulomatous disease
  Blood, 1991
• A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine 123
  Journal of Immunological Methods, 1990
• Heterogeneity in Chronic Granulomatous Disease Detected With an Improved Nitroblue Tetrazolium Slide Test
  Journal of Leukocyte Biology, 1986
• Diagnostic application of first trimester trophoblast sampling in 100 pregnancies
  Human Genetics, 1984