| 000 | 01755 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516081709.0 | ||
| 264 | 0 | _c20130122 | |
| 008 | 201301s 0 0 eng d | ||
| 022 | _a1573-2592 | ||
| 024 | 7 |
_a10.1007/s10875-012-9667-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aStasia, Marie José | |
| 245 | 0 | 0 |
_aRare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families. _h[electronic resource] |
| 260 |
_bJournal of clinical immunology _cAug 2012 |
||
| 300 |
_a653-62 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGranulomatous Disease, Chronic _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNADPH Oxidase 2 |
| 650 | 0 | 4 |
_aNADPH Oxidases _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _avan Leeuwen, Karin | |
| 700 | 1 | _ade Boer, Martin | |
| 700 | 1 | _aMartel, Cecile | |
| 700 | 1 | _aMollin, Michele | |
| 700 | 1 | _aThuret, Isabelle | |
| 700 | 1 | _aMichel, Gerard | |
| 700 | 1 | _aHanson, Celine | |
| 700 | 1 | _aAugustine, Nancy H | |
| 700 | 1 | _aCoutton, Charles | |
| 700 | 1 | _aSatre, Véronique | |
| 700 | 1 | _aWittwer, Carl T | |
| 700 | 1 | _aHill, Harry | |
| 700 | 1 | _aRoos, Dirk | |
| 773 | 0 |
_tJournal of clinical immunology _gvol. 32 _gno. 4 _gp. 653-62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10875-012-9667-2 _zAvailable from publisher's website |
| 999 |
_c21590063 _d21590063 |
||