000 | 02122 a2200649 4500 | ||
---|---|---|---|
005 | 20250515195455.0 | ||
264 | 0 | _c20100422 | |
008 | 201004s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.21156 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGentsch, Marcus | |
245 | 0 | 0 |
_aAlu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). _h[electronic resource] |
260 |
_bHuman mutation _cFeb 2010 |
||
300 |
_a151-8 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 |
_aAlu Elements _xgenetics |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aCell Line |
650 | 0 | 4 |
_aExons _xgenetics |
650 | 0 | 4 | _aGene Expression Regulation |
650 | 0 | 4 |
_aGranulomatous Disease, Chronic _xenzymology |
650 | 0 | 4 | _aHalf-Life |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutant Proteins _xgenetics |
650 | 0 | 4 |
_aNADPH Oxidases _xgenetics |
650 | 0 | 4 |
_aPhosphoproteins _xchemistry |
650 | 0 | 4 | _aProtein Stability |
650 | 0 | 4 | _aProtein Structure, Secondary |
650 | 0 | 4 |
_aRNA Stability _xgenetics |
650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
650 | 0 | 4 |
_aReactive Oxygen Species _xmetabolism |
650 | 0 | 4 |
_aRecombination, Genetic _xgenetics |
650 | 0 | 4 |
_aSequence Deletion _xgenetics |
700 | 1 | _aKaczmarczyk, Aneta | |
700 | 1 | _avan Leeuwen, Karin | |
700 | 1 | _ade Boer, Martin | |
700 | 1 | _aKaus-Drobek, Magdalena | |
700 | 1 | _aDagher, Marie-Claire | |
700 | 1 | _aKaiser, Petra | |
700 | 1 | _aArkwright, Peter D | |
700 | 1 | _aGahr, Manfred | |
700 | 1 | _aRösen-Wolff, Angela | |
700 | 1 | _aBochtler, Matthias | |
700 | 1 | _aSecord, Elizabeth | |
700 | 1 | _aBritto-Williams, Pamela | |
700 | 1 | _aSaifi, Gulam Mustafa | |
700 | 1 | _aMaddalena, Anne | |
700 | 1 | _aDbaibo, Ghassan | |
700 | 1 | _aBustamante, Jacinta | |
700 | 1 | _aCasanova, Jean-Laurent | |
700 | 1 | _aRoos, Dirk | |
700 | 1 | _aRoesler, Joachim | |
773 | 0 |
_tHuman mutation _gvol. 31 _gno. 2 _gp. 151-8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21156 _zAvailable from publisher's website |
999 |
_c19336788 _d19336788 |