Condition: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
rs104894510 in
CYBA gene and
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
PMID 8168815 1994 Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.
PMID 1763037 1991 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.
PMID 10910929 2000 Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
PMID 1415254 1992 Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
PMID 7964505 1994 156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox.
PMID 10914676 2000 Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
PMID 18422995 2008 Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.
PMID 2243141 1990 Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.
PMID 10759707 2000 Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.
PMID 19292887 2009 Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.