| 000 | 01817 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516034836.0 | ||
| 264 | 0 | _c20130314 | |
| 008 | 201303s 0 0 eng d | ||
| 022 | _a1945-0257 | ||
| 024 | 7 |
_a10.1089/gtmb.2010.0253 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAlías, Laura | |
| 245 | 0 | 0 |
_aAccuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. _h[electronic resource] |
| 260 |
_bGenetic testing and molecular biomarkers _cSep 2011 |
||
| 300 |
_a587-94 p. _bdigital |
||
| 500 | _aPublication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 |
_aGenetic Markers _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLigase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aMicrosatellite Repeats _xgenetics |
| 650 | 0 | 4 | _aModels, Biological |
| 650 | 0 | 4 |
_aMultiplex Polymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aMuscular Atrophy, Spinal _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aReal-Time Polymerase Chain Reaction _xmethods |
| 650 | 0 | 4 | _aReproducibility of Results |
| 650 | 0 | 4 | _aSensitivity and Specificity |
| 650 | 0 | 4 |
_aSurvival of Motor Neuron 2 Protein _xgenetics |
| 700 | 1 | _aBernal, Sara | |
| 700 | 1 | _aBarceló, Maria J | |
| 700 | 1 | _aAlso-Rallo, Eva | |
| 700 | 1 | _aMartínez-Hernández, Rebeca | |
| 700 | 1 | _aRodríguez-Alvarez, Francisco J | |
| 700 | 1 | _aHernández-Chico, Concepción | |
| 700 | 1 | _aBaiget, Montserrat | |
| 700 | 1 | _aTizzano, Eduardo F | |
| 773 | 0 |
_tGenetic testing and molecular biomarkers _gvol. 15 _gno. 9 _gp. 587-94 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1089/gtmb.2010.0253 _zAvailable from publisher's website |
| 999 |
_c20812376 _d20812376 |
||