000			01983 a2200625 4500
005			20250515174820.0
264		0	_c20101124
008			201011s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmg.2009.067553 _2doi
040			_aNLM _beng _cNLM
100	1		_aGerards, M
245	0	0	_aDefective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. _h[electronic resource]
260			_bJournal of medical genetics _cAug 2010
300			_a507-12 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aAmino Acid Substitution _xgenetics
650	0	4	_aBase Sequence
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aElectron Transport Complex I _xgenetics
650	0	4	_aFamily
650	0	4	_aFemale
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aLeigh Disease _xdiagnostic imaging
650	0	4	_aLeukocytes, Mononuclear _xenzymology
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMethyltransferases _xchemistry
650	0	4	_aMitochondrial Proteins _xchemistry
650	0	4	_aMolecular Sequence Data
650	0	4	_aMorocco
650	0	4	_aMutation _xgenetics
650	0	4	_aPedigree
650	0	4	_aTomography, X-Ray Computed
650	0	4	_aYoung Adult
700	1		_aSluiter, W
700	1		_avan den Bosch, B J C
700	1		_ade Wit, L E A
700	1		_aCalis, C M H
700	1		_aFrentzen, M
700	1		_aAkbari, H
700	1		_aSchoonderwoerd, K
700	1		_aScholte, H R
700	1		_aJongbloed, R J
700	1		_aHendrickx, A T M
700	1		_ade Coo, I F M
700	1		_aSmeets, H J M
773	0		_tJournal of medical genetics _gvol. 47 _gno. 8 _gp. 507-12
856	4	0	_uhttps://doi.org/10.1136/jmg.2009.067553 _zAvailable from publisher's website
999			_c18960198 _d18960198