Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene.

de Boer, Martin

Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene. [electronic resource] - Human mutation Apr 2014 - 486-96 p. digital

Publication Type: Journal Article

1098-1004

10.1002/humu.22519 doi


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