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