Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. [electronic resource]
Producer: 20030325Description: 374-9 p. digitalISSN:- 0091-6749
- Adult
- Base Sequence
- Child
- Chromosomes, Human, X -- genetics
- DNA Mutational Analysis
- Female
- Fluorescent Dyes
- Genes, Recessive
- Genetic Linkage
- Granulomatous Disease, Chronic -- diagnosis
- Humans
- Male
- Membrane Glycoproteins -- genetics
- Molecular Sequence Data
- Mosaicism
- Mutation
- NADPH Oxidase 2
- NADPH Oxidases
- Phosphoproteins -- genetics
- Rhodamines
- Superoxides -- metabolism
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Publication Type: Case Reports; Journal Article
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