| 000 | 01248 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250515234142.0 | ||
| 264 | 0 | _c20110128 | |
| 008 | 201101s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.21337 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCoppieters, Frauke | |
| 245 | 0 | 0 |
_aCEP290, a gene with many faces: mutation overview and presentation of CEP290base. _h[electronic resource] |
| 260 |
_bHuman mutation _cOct 2010 |
||
| 300 |
_a1097-108 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Review | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aAntigens, Neoplasm _xgenetics |
| 650 | 0 | 4 | _aCell Cycle Proteins |
| 650 | 0 | 4 |
_aCilia _xgenetics |
| 650 | 0 | 4 | _aCytoskeletal Proteins |
| 650 | 0 | 4 | _aDatabases, Genetic |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeoplasm Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aLefever, Steve | |
| 700 | 1 | _aLeroy, Bart P | |
| 700 | 1 | _aDe Baere, Elfride | |
| 773 | 0 |
_tHuman mutation _gvol. 31 _gno. 10 _gp. 1097-108 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21337 _zAvailable from publisher's website |
| 999 |
_c20028645 _d20028645 |
||