| 000 | 01442 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515160823.0 | ||
| 264 | 0 | _c20090527 | |
| 008 | 200905s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2009.01.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMacías-Vidal, Judit | |
| 245 | 0 | 0 |
_aNonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cMay 2009 |
||
| 300 |
_a60-4 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 |
_aFibroblasts _xpathology |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aNiemann-Pick C1 Protein |
| 650 | 0 | 4 |
_aNiemann-Pick Disease, Type C _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA Stability _xgenetics |
| 650 | 0 | 4 | _aSpain |
| 700 | 1 | _aGort, Laura | |
| 700 | 1 | _aLluch, Montse | |
| 700 | 1 | _aPineda, Mercè | |
| 700 | 1 | _aColl, Maria Josep | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 97 _gno. 1 _gp. 60-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2009.01.007 _zAvailable from publisher's website |
| 999 |
_c18666051 _d18666051 |
||