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 language | English |
|---|---|
| Pages (from-to) | 611-3 |
| Number of pages | 3 |
| Journal | Human Genetics |
| Volume | 97 |
| Issue number | 5 |
| Publication status | Published - 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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