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 |