000			01952 a2200589 4500
005			20250517113856.0
264		0	_c20171101
008			201711s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2016-103988 _2doi
040			_aNLM _beng _cNLM
100	1		_aSchossig, Anna
245	0	0	_aSLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. _h[electronic resource]
260			_bJournal of medical genetics _c01 2017
300			_a54-62 p. _bdigital
500			_aPublication Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAlleles
650	0	4	_aAmelogenesis Imperfecta _xgenetics
650	0	4	_aBrain Diseases _xgenetics
650	0	4	_aCohort Studies
650	0	4	_aDementia _xgenetics
650	0	4	_aEpilepsy _xgenetics
650	0	4	_aExome _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Linkage _xgenetics
650	0	4	_aGenetic Predisposition to Disease _xgenetics
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMutation _xgenetics
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aPedigree
650	0	4	_aSymporters _xgenetics
650	0	4	_aTooth
700	1		_aBloch-Zupan, Agnès
700	1		_aLussi, Adrian
700	1		_aWolf, Nicole I
700	1		_aRaskin, Salmo
700	1		_aCohen, Monika
700	1		_aGiuliano, Fabienne
700	1		_aJurgens, Julie
700	1		_aKrabichler, Birgit
700	1		_aKoolen, David A
700	1		_ade Macena Sobreira, Nara Lygia
700	1		_aMaurer, Elisabeth
700	1		_aMuller-Bolla, Michèle
700	1		_aPenzien, Johann
700	1		_aZschocke, Johannes
700	1		_aKapferer-Seebacher, Ines
773	0		_tJournal of medical genetics _gvol. 54 _gno. 1 _gp. 54-62
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2016-103988 _zAvailable from publisher's website
999			_c26394787 _d26394787