000 | 01224 a2200373 4500 | ||
---|---|---|---|
005 | 20250518002248.0 | ||
264 | 0 | _c20200406 | |
008 | 202004s 0 0 eng d | ||
022 | _a2240-2993 | ||
024 | 7 |
_a10.1007/s13760-018-1026-5 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aKasapkara, Çiğdem Seher | |
245 | 0 | 0 |
_aA new NBIA patient from Turkey with homozygous C19ORF12 mutation. _h[electronic resource] |
260 |
_bActa neurologica Belgica _cDec 2019 |
||
300 |
_a623-625 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter | ||
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIron Metabolism Disorders _xgenetics |
650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNeuroaxonal Dystrophies _xgenetics |
650 | 0 | 4 | _aTurkey |
700 | 1 | _aTümer, Leyla | |
700 | 1 | _aGregory, Allison | |
700 | 1 | _aEzgü, Fatih | |
700 | 1 | _aİnci, Aslı | |
700 | 1 | _aDerinkuyu, Betül Emine | |
700 | 1 | _aFox, Rachel | |
700 | 1 | _aRogers, Caleb | |
700 | 1 | _aHayflick, Susan | |
773 | 0 |
_tActa neurologica Belgica _gvol. 119 _gno. 4 _gp. 623-625 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s13760-018-1026-5 _zAvailable from publisher's website |
999 |
_c28916853 _d28916853 |