| 000 | 01268 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250517012034.0 | ||
| 264 | 0 | _c20151224 | |
| 008 | 201512s 0 0 eng d | ||
| 022 | _a1559-1166 | ||
| 024 | 7 |
_a10.1007/s12031-014-0483-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRonchi, Dario | |
| 245 | 0 | 0 |
_aNovel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype. _h[electronic resource] |
| 260 |
_bJournal of molecular neuroscience : MN _cMay 2015 |
||
| 300 |
_a212-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Atrophy, Spinal _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSurvival of Motor Neuron 1 Protein _xgenetics |
| 700 | 1 | _aPrevitali, Stefano Carlo | |
| 700 | 1 | _aSora, Maria Grazia Natali | |
| 700 | 1 | _aBarera, Graziano | |
| 700 | 1 | _aDel Menico, Benedetta | |
| 700 | 1 | _aCorti, Stefania | |
| 700 | 1 | _aBresolin, Nereo | |
| 700 | 1 | _aComi, Giacomo Pietro | |
| 773 | 0 |
_tJournal of molecular neuroscience : MN _gvol. 56 _gno. 1 _gp. 212-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s12031-014-0483-4 _zAvailable from publisher's website |
| 999 |
_c24519098 _d24519098 |
||