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