| 000 | 01535 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514050228.0 | ||
| 264 | 0 | _c20030317 | |
| 008 | 200303s 0 0 eng d | ||
| 022 | _a0340-5354 | ||
| 024 | 7 |
_a10.1007/s00415-002-0849-3 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMazzei, Rosalucia | |
| 245 | 0 | 0 |
_aA novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. _h[electronic resource] |
| 260 |
_bJournal of neurology _cOct 2002 |
||
| 300 |
_a1398-400 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAmino Acid Substitution _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCytoplasmic Granules _xpathology |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeuronal Ceroid-Lipofuscinoses _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aSkin _xpathology |
| 650 | 0 | 4 | _aThiolester Hydrolases |
| 700 | 1 | _aConforti, Francesca L | |
| 700 | 1 | _aMagariello, Angela | |
| 700 | 1 | _aBravaccio, Carmela | |
| 700 | 1 | _aMiliterni, Roberto | |
| 700 | 1 | _aGabriele, Anna L | |
| 700 | 1 | _aSampaolo, Simone | |
| 700 | 1 | _aPatitucci, Alessandra | |
| 700 | 1 | _aDi Iorio, Giuseppe | |
| 700 | 1 | _aMuglia, Maria | |
| 700 | 1 | _aQuattrone, Aldo | |
| 773 | 0 |
_tJournal of neurology _gvol. 249 _gno. 10 _gp. 1398-400 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00415-002-0849-3 _zAvailable from publisher's website |
| 999 |
_c12191544 _d12191544 |
||