000			02284 a2200721 4500
005			20250517042057.0
264		0	_c20151029
008			201510s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2015.05.021 _2doi
040			_aNLM _beng _cNLM
100	1		_aKumar, Raman
245	0	0	_aTHOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. _h[electronic resource]
260			_bAmerican journal of human genetics _cAug 2015
300			_a302-10 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aActive Transport, Cell Nucleus _xgenetics
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aChromosomes, Human, X _xgenetics
650	0	4	_aHumans
650	0	4	_aX-Linked Intellectual Disability _xgenetics
650	0	4	_aModels, Molecular
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aRNA, Messenger _xgenetics
650	0	4	_aRNA-Binding Proteins _xchemistry
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSyndrome
700	1		_aCorbett, Mark A
700	1		_avan Bon, Bregje W M
700	1		_aWoenig, Joshua A
700	1		_aWeir, Lloyd
700	1		_aDouglas, Evelyn
700	1		_aFriend, Kathryn L
700	1		_aGardner, Alison
700	1		_aShaw, Marie
700	1		_aJolly, Lachlan A
700	1		_aTan, Chuan
700	1		_aHunter, Matthew F
700	1		_aHackett, Anna
700	1		_aField, Michael
700	1		_aPalmer, Elizabeth E
700	1		_aLeffler, Melanie
700	1		_aRogers, Carolyn
700	1		_aBoyle, Jackie
700	1		_aBienek, Melanie
700	1		_aJensen, Corinna
700	1		_aVan Buggenhout, Griet
700	1		_aVan Esch, Hilde
700	1		_aHoffmann, Katrin
700	1		_aRaynaud, Martine
700	1		_aZhao, Huiying
700	1		_aReed, Robin
700	1		_aHu, Hao
700	1		_aHaas, Stefan A
700	1		_aHaan, Eric
700	1		_aKalscheuer, Vera M
700	1		_aGecz, Jozef
773	0		_tAmerican journal of human genetics _gvol. 97 _gno. 2 _gp. 302-10
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2015.05.021 _zAvailable from publisher's website
999			_c25066335 _d25066335