| 000 | 01293 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250514214332.0 | ||
| 264 | 0 | _c20050706 | |
| 008 | 200507s 0 0 eng d | ||
| 022 | _a1364-6745 | ||
| 024 | 7 |
_a10.1007/s10048-004-0202-3 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAndrigo, Cinzia | |
| 245 | 0 | 0 |
_aA novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. _h[electronic resource] |
| 260 |
_bNeurogenetics _cFeb 2005 |
||
| 300 |
_a49-50 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAxons |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xclassification |
| 650 | 0 | 4 | _aDNA Primers |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeurofilament Proteins _xgenetics |
| 650 | 0 | 4 | _aReference Values |
| 700 | 1 | _aBoito, Chiara | |
| 700 | 1 | _aPrandini, Paola | |
| 700 | 1 | _aMostacciuolo, Maria Luisa | |
| 700 | 1 | _aSiciliano, Gabriele | |
| 700 | 1 | _aAngelini, Corrado | |
| 700 | 1 | _aPegoraro, Elena | |
| 773 | 0 |
_tNeurogenetics _gvol. 6 _gno. 1 _gp. 49-50 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10048-004-0202-3 _zAvailable from publisher's website |
| 999 |
_c15333797 _d15333797 |
||