| 000 | 01612 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250514204910.0 | ||
| 264 | 0 | _c20050131 | |
| 008 | 200501s 0 0 eng d | ||
| 022 | _a0960-8966 | ||
| 024 | 7 |
_a10.1016/j.nmd.2004.05.017 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFalco, Michele | |
| 245 | 0 | 0 |
_aTwo novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cNov 2004 |
||
| 300 |
_a750-3 p. _bdigital |
||
| 500 | _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdenosine Triphosphatases |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCalcium-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromatography, High Pressure Liquid _xmethods |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aRNA, Messenger _xbiosynthesis |
| 650 | 0 | 4 |
_aReverse Transcriptase Polymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aSpastic Paraplegia, Hereditary _xgenetics |
| 650 | 0 | 4 | _aSpastin |
| 700 | 1 | _aScuderi, Carmela | |
| 700 | 1 | _aMusumeci, Sebastiano | |
| 700 | 1 | _aSturnio, Maurizio | |
| 700 | 1 | _aNeri, Marcella | |
| 700 | 1 | _aBigoni, Stefania | |
| 700 | 1 | _aCaniatti, Luisa | |
| 700 | 1 | _aFichera, Marco | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 14 _gno. 11 _gp. 750-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2004.05.017 _zAvailable from publisher's website |
| 999 |
_c15173700 _d15173700 |
||