000			02047 a2200649 4500
005			20250517181336.0
264		0	_c20180717
008			201807s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.23359 _2doi
040			_aNLM _beng _cNLM
100	1		_aDurand, Christelle M
245	0	0	_aCYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. _h[electronic resource]
260			_bHuman mutation _c01 2018
300			_a140-151 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAlleles
650	0	4	_aAmino Acid Substitution
650	0	4	_aCytochrome P450 Family 2 _xchemistry
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEnzyme Activation
650	0	4	_aGene Expression
650	0	4	_aGenetic Association Studies
650	0	4	_aHEK293 Cells
650	0	4	_aHumans
650	0	4	_aModels, Molecular
650	0	4	_aMutation, Missense
650	0	4	_aOxidation-Reduction
650	0	4	_aPhenotype
650	0	4	_aProtein Conformation
650	0	4	_aSpastic Paraplegia, Hereditary _xdiagnosis
700	1		_aDhers, Laura
700	1		_aTesson, Christelle
700	1		_aTessa, Alessandra
700	1		_aFouillen, Laetitia
700	1		_aJacqueré, Stéphanie
700	1		_aRaymond, Laure
700	1		_aCoupry, Isabelle
700	1		_aBenard, Giovanni
700	1		_aDarios, Frédéric
700	1		_aEl-Hachimi, Khalid H
700	1		_aAstrea, Guja
700	1		_aRivier, François
700	1		_aBanneau, Guillaume
700	1		_aPujol, Claire
700	1		_aLacombe, Didier
700	1		_aDurr, Alexandra
700	1		_aBabin, Patrick J
700	1		_aSantorelli, Filippo M
700	1		_aPietrancosta, Nicolas
700	1		_aBoucher, Jean-Luc
700	1		_aMansuy, Daniel
700	1		_aStevanin, Giovanni
700	1		_aGoizet, Cyril
773	0		_tHuman mutation _gvol. 39 _gno. 1 _gp. 140-151
856	4	0	_uhttps://doi.org/10.1002/humu.23359 _zAvailable from publisher's website
999			_c27687286 _d27687286