000			01983 a2200613 4500
005			20250517191440.0
264		0	_c20190328
008			201903s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.23380 _2doi
040			_aNLM _beng _cNLM
100	1		_aAbbott, Jamie A
245	0	0	_aSubstrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. _h[electronic resource]
260			_bHuman mutation _c03 2018
300			_a415-432 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aAminoacylation
650	0	4	_aAxons _xpathology
650	0	4	_aBiocatalysis
650	0	4	_aCatalytic Domain
650	0	4	_aConserved Sequence
650	0	4	_aFemale
650	0	4	_aGenetic Complementation Test
650	0	4	_aHistidine-tRNA Ligase _xchemistry
650	0	4	_aHumans
650	0	4	_aKinetics
650	0	4	_aMale
650	0	4	_aMutation _xgenetics
650	0	4	_aPedigree
650	0	4	_aPeripheral Nervous System Diseases _xenzymology
650	0	4	_aProtein Multimerization
650	0	4	_aSubstrate Specificity
700	1		_aMeyer-Schuman, Rebecca
700	1		_aLupo, Vincenzo
700	1		_aFeely, Shawna
700	1		_aMademan, Inès
700	1		_aOprescu, Stephanie N
700	1		_aGriffin, Laurie B
700	1		_aAlberti, M Antonia
700	1		_aCasasnovas, Carlos
700	1		_aAharoni, Sharon
700	1		_aBasel-Vanagaite, Lina
700	1		_aZüchner, Stephan
700	1		_aDe Jonghe, Peter
700	1		_aBaets, Jonathan
700	1		_aShy, Michael E
700	1		_aEspinós, Carmen
700	1		_aDemeler, Borries
700	1		_aAntonellis, Anthony
700	1		_aFrancklyn, Christopher
773	0		_tHuman mutation _gvol. 39 _gno. 3 _gp. 415-432
856	4	0	_uhttps://doi.org/10.1002/humu.23380 _zAvailable from publisher's website
999			_c27883730 _d27883730