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