| 000 | 01605 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250514193625.0 | ||
| 264 | 0 | _c20041221 | |
| 008 | 200412s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/01.wnl.0000132634.48815.13 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCuscó, I | |
| 245 | 0 | 0 |
_aDetection of novel mutations in the SMN Tudor domain in type I SMA patients. _h[electronic resource] |
| 260 |
_bNeurology _cJul 2004 |
||
| 300 |
_a146-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aCyclic AMP Response Element-Binding Protein |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aProtein Structure, Tertiary _xgenetics |
| 650 | 0 | 4 | _aRNA-Binding Proteins |
| 650 | 0 | 4 | _aSMN Complex Proteins |
| 650 | 0 | 4 | _aSpain |
| 650 | 0 | 4 |
_aSpinal Muscular Atrophies of Childhood _xgenetics |
| 650 | 0 | 4 | _aSurvival of Motor Neuron 1 Protein |
| 700 | 1 | _aBarceló, M Jesus | |
| 700 | 1 | _adel Río, E | |
| 700 | 1 | _aBaiget, M | |
| 700 | 1 | _aTizzano, E F | |
| 773 | 0 |
_tNeurology _gvol. 63 _gno. 1 _gp. 146-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000132634.48815.13 _zAvailable from publisher's website |
| 999 |
_c14952676 _d14952676 |
||