000			02193 a2200625 4500
005			20250516224351.0
264		0	_c20141015
008			201410s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2014.06.014 _2doi
040			_aNLM _beng _cNLM
100	1		_aBoone, Philip M
245	0	0	_aThe Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. _h[electronic resource]
260			_bAmerican journal of human genetics _cAug 2014
300			_a143-61 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
650	0	4	_aAdenosine Triphosphatases _xgenetics
650	0	4	_aAlu Elements _xgenetics
650	0	4	_aBase Sequence
650	0	4	_aCation Transport Proteins _xgenetics
650	0	4	_aCell Line, Transformed
650	0	4	_aDNA Copy Number Variations _xgenetics
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aProtein Isoforms _xgenetics
650	0	4	_aRecombinant Fusion Proteins _xgenetics
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSequence Deletion
650	0	4	_aSpastic Paraplegia, Hereditary _xgenetics
650	0	4	_aSpastin
700	1		_aYuan, Bo
700	1		_aCampbell, Ian M
700	1		_aScull, Jennifer C
700	1		_aWithers, Marjorie A
700	1		_aBaggett, Brett C
700	1		_aBeck, Christine R
700	1		_aShaw, Christine J
700	1		_aStankiewicz, Pawel
700	1		_aMoretti, Paolo
700	1		_aGoodwin, Wendy E
700	1		_aHein, Nichole
700	1		_aFink, John K
700	1		_aSeong, Moon-Woo
700	1		_aSeo, Soo Hyun
700	1		_aPark, Sung Sup
700	1		_aKarbassi, Izabela D
700	1		_aBatish, Sat Dev
700	1		_aOrdóñez-Ugalde, Andrés
700	1		_aQuintáns, Beatriz
700	1		_aSobrido, María-Jesús
700	1		_aStemmler, Susanne
700	1		_aLupski, James R
773	0		_tAmerican journal of human genetics _gvol. 95 _gno. 2 _gp. 143-61
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2014.06.014 _zAvailable from publisher's website
999			_c24046149 _d24046149