000			02118 a2200625 4500
005			20250515122848.0
264		0	_c20080730
008			200807s 0 0 eng d
022			_a1432-1203
024	7		_a10.1007/s00439-008-0521-9 _2doi
040			_aNLM _beng _cNLM
100	1		_aPedersen, Christina B
245	0	0	_aThe ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. _h[electronic resource]
260			_bHuman genetics _cAug 2008
300			_a43-56 p. _bdigital
500			_aPublication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
650	0	4	_aAnimals
650	0	4	_aButyryl-CoA Dehydrogenase _xchemistry
650	0	4	_aDimerization
650	0	4	_aEnzyme Activation _xgenetics
650	0	4	_aGene Frequency
650	0	4	_aHumans
650	0	4	_aMalonates _xmetabolism
650	0	4	_aMetabolism, Inborn Errors _xenzymology
650	0	4	_aMice
650	0	4	_aMice, Inbred BALB C
650	0	4	_aMice, Knockout
650	0	4	_aModels, Molecular
650	0	4	_aMutation, Missense _xphysiology
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aProtein Binding
650	0	4	_aProtein Folding
650	0	4	_aStructure-Activity Relationship
700	1		_aKølvraa, Steen
700	1		_aKølvraa, Agnete
700	1		_aStenbroen, Vibeke
700	1		_aKjeldsen, Margrethe
700	1		_aEnsenauer, Regina
700	1		_aTein, Ingrid
700	1		_aMatern, Dietrich
700	1		_aRinaldo, Piero
700	1		_aVianey-Saban, Christine
700	1		_aRibes, Antonia
700	1		_aLehnert, Willy
700	1		_aChristensen, Ernst
700	1		_aCorydon, Thomas J
700	1		_aAndresen, Brage S
700	1		_aVang, Søren
700	1		_aBolund, Lars
700	1		_aVockley, Jerry
700	1		_aBross, Peter
700	1		_aGregersen, Niels
773	0		_tHuman genetics _gvol. 124 _gno. 1 _gp. 43-56
856	4	0	_uhttps://doi.org/10.1007/s00439-008-0521-9 _zAvailable from publisher's website
999			_c18016434 _d18016434