000			02001 a2200589 4500
005			20250515113125.0
264		0	_c20090615
008			200906s 0 0 eng d
022			_a1364-6753
024	7		_a10.1007/s10048-008-0125-5 _2doi
040			_aNLM _beng _cNLM
100	1		_aBetsalel, Ofir T
245	0	0	_aDetection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. _h[electronic resource]
260			_bNeurogenetics _cJul 2008
300			_a183-90 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aCells, Cultured
650	0	4	_aChromatography, High Pressure Liquid
650	0	4	_aDNA _xblood
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGenes, X-Linked
650	0	4	_aGerm-Line Mutation
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aX-Linked Intellectual Disability _xblood
650	0	4	_aMolecular Sequence Data
650	0	4	_aMosaicism
650	0	4	_aNerve Tissue Proteins _xblood
650	0	4	_aNucleic Acid Denaturation
650	0	4	_aPedigree
650	0	4	_aPlasma Membrane Neurotransmitter Transport Proteins _xblood
650	0	4	_aSequence Deletion
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aTransfection
700	1		_avan de Kamp, Jiddeke M
700	1		_aMartínez-Muñoz, Cristina
700	1		_aRosenberg, Efraim H
700	1		_ade Brouwer, Arjan P M
700	1		_aPouwels, Petra J W
700	1		_avan der Knaap, Marjo S
700	1		_aMancini, Grazia M S
700	1		_aJakobs, Cornelis
700	1		_aHamel, Ben C J
700	1		_aSalomons, Gajja S
773	0		_tNeurogenetics _gvol. 9 _gno. 3 _gp. 183-90
856	4	0	_uhttps://doi.org/10.1007/s10048-008-0125-5 _zAvailable from publisher's website
999			_c17851443 _d17851443