000			01996 a2200637 4500
005			20250517011020.0
264		0	_c20160301
008			201603s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2014-102592 _2doi
040			_aNLM _beng _cNLM
100	1		_aAl-Hassnan, Zuhair N
245	0	0	_aISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. _h[electronic resource]
260			_bJournal of medical genetics _cMar 2015
300			_a186-94 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAlexander Disease _xgenetics
650	0	4	_aChild, Preschool
650	0	4	_aDNA, Mitochondrial _xgenetics
650	0	4	_aExome _xgenetics
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aIron-Sulfur Proteins _xgenetics
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMitochondrial Diseases _xgenetics
650	0	4	_aMutation, Missense
650	0	4	_aNeurodegenerative Diseases _xgenetics
650	0	4	_aPedigree
650	0	4	_aSequence Analysis, DNA
650	0	4	_aWhite Matter _xabnormalities
700	1		_aAl-Dosary, Mazhor
700	1		_aAlfadhel, Majid
700	1		_aFaqeih, Eissa A
700	1		_aAlsagob, Maysoon
700	1		_aKenana, Rosan
700	1		_aAlmass, Rawan
700	1		_aAl-Harazi, Olfat S
700	1		_aAl-Hindi, Hindi
700	1		_aMalibari, Omhani I
700	1		_aAlmutari, Faten B
700	1		_aTulbah, Sahar
700	1		_aAlhadeq, Faten
700	1		_aAl-Sheddi, Tarfa
700	1		_aAlamro, Rana
700	1		_aAlAsmari, Ali
700	1		_aAlmuntashri, Makki
700	1		_aAlshaalan, Hesham
700	1		_aAl-Mohanna, Futwan A
700	1		_aColak, Dilek
700	1		_aKaya, Namik
773	0		_tJournal of medical genetics _gvol. 52 _gno. 3 _gp. 186-94
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2014-102592 _zAvailable from publisher's website
999			_c24487712 _d24487712