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 |