title: A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.
abstract: We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion.
authors.affiliation: Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, University of Amsterdam, The Netherlands.
authors.forename: F
authors.initials: F
authors.lastname: Kuribayashi
authors.forename: M
authors.initials: M
authors.lastname: de Boer
authors.forename: J H
authors.initials: JH
authors.lastname: Leusen
authors.forename: A J
authors.initials: AJ
authors.lastname: Verhoeven
authors.forename: D
authors.initials: D
authors.lastname: Roos
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000097:blood / Q000737:chemistry / Q000302:isolation & purification; D017931:DNA Primers; D004587:Electrophoresis, Agar Gel; D005091:Exons; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D008562:Membrane Glycoproteins; D004247:DNA; D009247:NADH, NADPH Oxidoreductases; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases