000			01942 a2200577 4500
005			20250514025424.0
264		0	_c20020523
008			200205s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/340092 _2doi
040			_aNLM _beng _cNLM
100	1		_aHahn, Kimberly A
245	0	0	_aX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. _h[electronic resource]
260			_bAmerican journal of human genetics _cMay 2002
300			_a1349-56 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAged
650	0	4	_aAlternative Splicing _xgenetics
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFemale
650	0	4	_aGenetic Linkage _xgenetics
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xcomplications
650	0	4	_aIntrons _xgenetics
650	0	4	_aMale
650	0	4	_aMembrane Transport Proteins _xgenetics
650	0	4	_aMiddle Aged
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation _xgenetics
650	0	4	_aPedigree
650	0	4	_aSeizures _xcomplications
650	0	4	_aX Chromosome _xgenetics
700	1		_aSalomons, Gajja S
700	1		_aTackels-Horne, Darci
700	1		_aWood, Tim C
700	1		_aTaylor, Harold A
700	1		_aSchroer, Richard J
700	1		_aLubs, Herbert A
700	1		_aJakobs, Cornelis
700	1		_aOlson, Rick L
700	1		_aHolden, Kenton R
700	1		_aStevenson, Roger E
700	1		_aSchwartz, Charles E
773	0		_tAmerican journal of human genetics _gvol. 70 _gno. 5 _gp. 1349-56
856	4	0	_uhttps://doi.org/10.1086/340092 _zAvailable from publisher's website
999			_c11804163 _d11804163