| 000 | 01029 a2200337 4500 | ||
|---|---|---|---|
| 005 | 20250517030851.0 | ||
| 264 | 0 | _c20151009 | |
| 008 | 201510s 0 0 spa d | ||
| 022 | _a0025-7680 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLaurito, Sergio | |
| 245 | 0 | 0 |
_a[Neurofibromatosis type 1. Splicing mutation detected by MLPA and DNA sequencing in Argentina]. _h[electronic resource] |
| 260 |
_bMedicina _c2015 |
||
| 300 |
_a91-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAlgorithms |
| 650 | 0 | 4 | _aArgentina |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIndians, South American |
| 650 | 0 | 4 | _aMultiplex Polymerase Chain Reaction |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNeurofibromatosis 1 _xgenetics |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aWhite People |
| 700 | 1 | _aDi Pierri, José | |
| 700 | 1 | _aRoqué, María | |
| 773 | 0 |
_tMedicina _gvol. 75 _gno. 2 _gp. 91-4 |
|
| 999 |
_c24848742 _d24848742 |
||