Article
Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.
Human genetics - 1 Apr 1994
Hossle J P, de Boer M, Seger R A, Roos D
Abstract excerpt
A rare subgroup (approx. 5%) of all chronic granulomatous disease (CGD) patients suffers from mutations in the gene encoding the small p22-phox subunit of the flavocytochrome b558 heterodimer, the terminal redox component of the phagocyte NADPH oxidase. A male CGD patient with neutrophil granuloc...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Child
- DNA Primers
- Granulocytes
- Granulomatous Disease, Chronic
- Heterozygote
- Humans
- Male
- Membrane Transport Proteins
- Molecular Sequence Data
- Mutation
- NADPH Dehydrogenase
- NADPH Oxidases
- Phosphoproteins
- Point Mutation