000			02138 a2200661 4500
005			20250518004854.0
264		0	_c20190514
008			201905s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2018.10.004 _2doi
040			_aNLM _beng _cNLM
100	1		_aSchlingmann, Karl P
245	0	0	_aGermline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. _h[electronic resource]
260			_bAmerican journal of human genetics _c11 2018
300			_a808-816 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aGerm Cells
650	0	4	_aHeterozygote
650	0	4	_aHomeostasis _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aKidney _xpathology
650	0	4	_aMagnesium _xmetabolism
650	0	4	_aMale
650	0	4	_aMutation _xgenetics
650	0	4	_aPhenotype
650	0	4	_aProtein Isoforms _xgenetics
650	0	4	_aRenal Tubular Transport, Inborn Errors _xgenetics
650	0	4	_aSeizures _xgenetics
650	0	4	_aSodium-Potassium-Exchanging ATPase _xgenetics
700	1		_aBandulik, Sascha
700	1		_aMammen, Cherry
700	1		_aTarailo-Graovac, Maja
700	1		_aHolm, Rikke
700	1		_aBaumann, Matthias
700	1		_aKönig, Jens
700	1		_aLee, Jessica J Y
700	1		_aDrögemöller, Britt
700	1		_aImminger, Katrin
700	1		_aBeck, Bodo B
700	1		_aAltmüller, Janine
700	1		_aThiele, Holger
700	1		_aWaldegger, Siegfried
700	1		_aVan't Hoff, William
700	1		_aKleta, Robert
700	1		_aWarth, Richard
700	1		_avan Karnebeek, Clara D M
700	1		_aVilsen, Bente
700	1		_aBockenhauer, Detlef
700	1		_aKonrad, Martin
773	0		_tAmerican journal of human genetics _gvol. 103 _gno. 5 _gp. 808-816
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2018.10.004 _zAvailable from publisher's website
999			_c29004872 _d29004872