Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene. [electronic resource]
Producer: 20150129Description: 486-96 p. digitalISSN:- 1098-1004
- Adult
- DNA -- analysis
- DNA Methylation
- DNA-Binding Proteins -- genetics
- Exons
- Female
- Granulomatous Disease, Chronic -- genetics
- Humans
- Introns
- Long Interspersed Nucleotide Elements
- Male
- Membrane Glycoproteins -- genetics
- Mosaicism
- Mutagenesis, Insertional
- NADPH Oxidase 2
- NADPH Oxidases -- genetics
- Netherlands
- Pedigree
- RNA Splicing
- Transcription Factors -- genetics
- Young Adult
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Publication Type: Journal Article
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