A novel polymorphism in the coding region of CYBB, the human gp91-phox gene

F Kuribayashi, M de Boer, J H Leusen, A J Verhoeven, D Roos

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)611-3
Number of pages3
JournalHuman Genetics
Volume97
Issue number5
Publication statusPublished - 1996

Keywords

  • Amino Acid Sequence
  • Base Sequence
  • DNA
  • DNA Primers
  • Electrophoresis, Agar Gel
  • Exons
  • Female
  • Granulomatous Disease, Chronic
  • Humans
  • Leukocytes
  • Male
  • Membrane Glycoproteins
  • Molecular Sequence Data
  • NADH, NADPH Oxidoreductases
  • NADPH Oxidase
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • X Chromosome
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't

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