000 01630 a2200529 4500
005 20250516193648.0
264 0 _c20150129
008 201501s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.22519
_2doi
040 _aNLM
_beng
_cNLM
100 1 _ade Boer, Martin
245 0 0 _aPrimary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene.
_h[electronic resource]
260 _bHuman mutation
_cApr 2014
300 _a486-96 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAdult
650 0 4 _aDNA
_xanalysis
650 0 4 _aDNA Methylation
650 0 4 _aDNA-Binding Proteins
_xgenetics
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aGranulomatous Disease, Chronic
_xgenetics
650 0 4 _aHumans
650 0 4 _aIntrons
650 0 4 _aLong Interspersed Nucleotide Elements
650 0 4 _aMale
650 0 4 _aMembrane Glycoproteins
_xgenetics
650 0 4 _aMosaicism
650 0 4 _aMutagenesis, Insertional
650 0 4 _aNADPH Oxidase 2
650 0 4 _aNADPH Oxidases
_xgenetics
650 0 4 _aNetherlands
650 0 4 _aPedigree
650 0 4 _aRNA Splicing
650 0 4 _aTranscription Factors
_xgenetics
650 0 4 _aYoung Adult
700 1 _avan Leeuwen, Karin
700 1 _aGeissler, Judy
700 1 _aWeemaes, Corry M
700 1 _avan den Berg, Timo K
700 1 _aKuijpers, Taco W
700 1 _aWarris, Adilia
700 1 _aRoos, Dirk
773 0 _tHuman mutation
_gvol. 35
_gno. 4
_gp. 486-96
856 4 0 _uhttps://doi.org/10.1002/humu.22519
_zAvailable from publisher's website
999 _c23498918
_d23498918