000 | 01514 a2200433 4500 | ||
---|---|---|---|
005 | 20250516122945.0 | ||
264 | 0 | _c20131104 | |
008 | 201311s 0 0 eng d | ||
022 | _a1476-5438 | ||
024 | 7 |
_a10.1038/ejhg.2012.261 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aCastellanos, Elisabeth | |
245 | 0 | 0 |
_aIn vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. _h[electronic resource] |
260 |
_bEuropean journal of human genetics : EJHG _cJul 2013 |
||
300 |
_a769-73 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aCells, Cultured |
650 | 0 | 4 |
_aFibroblasts _xcytology |
650 | 0 | 4 |
_aGerm-Line Mutation _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntrons _xgenetics |
650 | 0 | 4 |
_aMorpholinos _xadministration & dosage |
650 | 0 | 4 |
_aNeurofibromatosis 2 _xgenetics |
650 | 0 | 4 |
_aNeurofibromin 2 _xgenetics |
650 | 0 | 4 |
_aRNA, Antisense _xgenetics |
700 | 1 | _aRosas, Imma | |
700 | 1 | _aSolanes, Ares | |
700 | 1 | _aBielsa, Isabel | |
700 | 1 | _aLázaro, Conxi | |
700 | 1 | _aCarrato, Cristina | |
700 | 1 | _aHostalot, Cristina | |
700 | 1 | _aPrades, Pepe | |
700 | 1 | _aRoca-Ribas, Francesc | |
700 | 1 | _aBlanco, Ignacio | |
700 | 1 | _aSerra, Eduard | |
773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 21 _gno. 7 _gp. 769-73 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2012.261 _zAvailable from publisher's website |
999 |
_c22297852 _d22297852 |