000			01969 a2200589 4500
005			20250515062858.0
264		0	_c20070514
008			200705s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmg.2006.045716 _2doi
040			_aNLM _beng _cNLM
100	1		_aBlok, M J
245	0	0	_aMutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. _h[electronic resource]
260			_bJournal of medical genetics _cApr 2007
300			_ae74 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aBrain _xabnormalities
650	0	4	_aChild
650	0	4	_aChromatography, High Pressure Liquid
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDNA, Mitochondrial _xgenetics
650	0	4	_aDiseases in Twins
650	0	4	_aElectron Transport Complex I _xchemistry
650	0	4	_aFatal Outcome
650	0	4	_aFemale
650	0	4	_aGenetic Testing
650	0	4	_aHumans
650	0	4	_aHydrophobic and Hydrophilic Interactions
650	0	4	_aInfant, Newborn
650	0	4	_aLeigh Disease _xgenetics
650	0	4	_aMELAS Syndrome _xgenetics
650	0	4	_aMale
650	0	4	_aMitochondria, Muscle _xenzymology
650	0	4	_aMitochondrial Diseases _xgenetics
650	0	4	_aMitochondrial Proteins _xchemistry
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense
650	0	4	_aOxidative Phosphorylation
650	0	4	_aPhenotype
650	0	4	_aProtein Subunits
650	0	4	_aSequence Alignment
650	0	4	_aSequence Homology, Amino Acid
700	1		_aSpruijt, L
700	1		_ade Coo, I F M
700	1		_aSchoonderwoerd, K
700	1		_aHendrickx, A
700	1		_aSmeets, H J
773	0		_tJournal of medical genetics _gvol. 44 _gno. 4 _gp. e74
856	4	0	_uhttps://doi.org/10.1136/jmg.2006.045716 _zAvailable from publisher's website
999			_c16953251 _d16953251