| 000 | 01537 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250514235242.0 | ||
| 264 | 0 | _c20051021 | |
| 008 | 200510s 0 0 eng d | ||
| 022 | _a0304-3940 | ||
| 024 | 7 |
_a10.1016/j.neulet.2005.07.023 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKwon, Jennifer M | |
| 245 | 0 | 0 |
_aNovel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. _h[electronic resource] |
| 260 |
_bNeuroscience letters _cOct 2005 |
||
| 300 |
_a111-4 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBrain _xmetabolism |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDisease Progression |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 |
_aMolecular Chaperones _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNeuronal Ceroid-Lipofuscinoses _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 |
_aProtein Structure, Tertiary _xgenetics |
| 700 | 1 | _aRothberg, Paul G | |
| 700 | 1 | _aLeman, Adam R | |
| 700 | 1 | _aWeimer, Jill M | |
| 700 | 1 | _aMink, Jonathan W | |
| 700 | 1 | _aPearce, David A | |
| 773 | 0 |
_tNeuroscience letters _gvol. 387 _gno. 2 _gp. 111-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.neulet.2005.07.023 _zAvailable from publisher's website |
| 999 |
_c15725611 _d15725611 |
||