| 000 | 01307 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250515230855.0 | ||
| 264 | 0 | _c20101123 | |
| 008 | 201011s 0 0 eng d | ||
| 022 | _a1872-8278 | ||
| 024 | 7 |
_a10.1016/j.mito.2010.05.008 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGerards, Mike | |
| 245 | 0 | 0 |
_aNonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. _h[electronic resource] |
| 260 |
_bMitochondrion _cAug 2010 |
||
| 300 |
_a510-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAtrophy |
| 650 | 0 | 4 | _aCerebellar Ataxia |
| 650 | 0 | 4 |
_aCerebellum _xpathology |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xdeficiency |
| 650 | 0 | 4 | _aRNA Stability |
| 700 | 1 | _avan den Bosch, Bianca | |
| 700 | 1 | _aCalis, Chantal | |
| 700 | 1 | _aSchoonderwoerd, Kees | |
| 700 | 1 | _avan Engelen, Klaartje | |
| 700 | 1 | _aTijssen, Marina | |
| 700 | 1 | _ade Coo, René | |
| 700 | 1 | _avan der Kooi, Anneke | |
| 700 | 1 | _aSmeets, Hubert | |
| 773 | 0 |
_tMitochondrion _gvol. 10 _gno. 5 _gp. 510-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.mito.2010.05.008 _zAvailable from publisher's website |
| 999 |
_c19928791 _d19928791 |
||