000			02456 a2200757 4500
005			20250516072208.0
264		0	_c20120608
008			201206s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.22016 _2doi
040			_aNLM _beng _cNLM
100	1		_aVerhagen, Mijke M M
245	0	0	_aPresence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. _h[electronic resource]
260			_bHuman mutation _cMar 2012
300			_a561-71 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAtaxia Telangiectasia _xgenetics
650	0	4	_aAtaxia Telangiectasia Mutated Proteins
650	0	4	_aCell Cycle Proteins _xgenetics
650	0	4	_aChild
650	0	4	_aDNA-Binding Proteins _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Association Studies
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aProtein Serine-Threonine Kinases _xgenetics
650	0	4	_aTumor Suppressor Proteins _xgenetics
650	0	4	_aYoung Adult
700	1		_aLast, James I
700	1		_aHogervorst, Frans B L
700	1		_aSmeets, Dominique F C M
700	1		_aRoeleveld, Nel
700	1		_aVerheijen, Frans
700	1		_aCatsman-Berrevoets, Coriene E
700	1		_aWulffraat, Nico M
700	1		_aCobben, Jan M
700	1		_aHiel, Johan
700	1		_aBrunt, Ewout R
700	1		_aPeeters, Els A J
700	1		_aGómez Garcia, Encarna B
700	1		_avan der Knaap, Marjo S
700	1		_aLincke, Carsten R
700	1		_aLaan, Laura A E M
700	1		_aTijssen, Marina A J
700	1		_avan Rijn, Monique A
700	1		_aMajoor-Krakauer, Danielle
700	1		_aVisser, Marjan
700	1		_avan 't Veer, Laura J
700	1		_aKleijer, Wim J
700	1		_avan de Warrenburg, Bart P C
700	1		_aWarris, Adilia
700	1		_ade Groot, Imelda J M
700	1		_ade Groot, Ronald
700	1		_aBroeks, Annegien
700	1		_aPreijers, Frank
700	1		_aKremer, Berry H P H
700	1		_aWeemaes, Corry M R
700	1		_aTaylor, Malcolm A M R
700	1		_avan Deuren, Marcel
700	1		_aWillemsen, Michèl A A P
773	0		_tHuman mutation _gvol. 33 _gno. 3 _gp. 561-71
856	4	0	_uhttps://doi.org/10.1002/humu.22016 _zAvailable from publisher's website
999			_c21431509 _d21431509