000 | 01635 a2200481 4500 | ||
---|---|---|---|
005 | 20250515002534.0 | ||
264 | 0 | _c20060207 | |
008 | 200602s 0 0 eng d | ||
022 | _a0960-8966 | ||
024 | 7 |
_a10.1016/j.nmd.2005.08.001 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMikesová, E | |
245 | 0 | 0 |
_aNovel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. _h[electronic resource] |
260 |
_bNeuromuscular disorders : NMD _cNov 2005 |
||
300 |
_a764-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 |
_aArginine _xgenetics |
650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xcomplications |
650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGlutamine _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNeural Conduction _xphysiology |
650 | 0 | 4 | _aNeurologic Examination |
650 | 0 | 4 |
_aPeripheral Nerves _xphysiopathology |
650 | 0 | 4 | _aRadiography |
650 | 0 | 4 |
_aScoliosis _xcomplications |
650 | 0 | 4 |
_aTrans-Activators _xgenetics |
650 | 0 | 4 | _aTranscriptional Regulator ERG |
700 | 1 | _aHühne, K | |
700 | 1 | _aRautenstrauss, B | |
700 | 1 | _aMazanec, R | |
700 | 1 | _aBaránková, L | |
700 | 1 | _aVyhnálek, M | |
700 | 1 | _aHorácek, O | |
700 | 1 | _aSeeman, P | |
773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 15 _gno. 11 _gp. 764-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2005.08.001 _zAvailable from publisher's website |
999 |
_c15828914 _d15828914 |