| 000 | 01617 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250515114233.0 | ||
| 264 | 0 | _c20080416 | |
| 008 | 200804s 0 0 eng d | ||
| 022 | _a1432-1203 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLimaye, Nisha | |
| 245 | 0 | 0 |
_aNovel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. _h[electronic resource] |
| 260 |
_bHuman genetics _cDec 2007 |
||
| 300 |
_a552 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCentral Nervous System Neoplasms _xgenetics |
| 650 | 0 | 4 |
_aCodon _xgenetics |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 |
_aHemangioma, Cavernous, Central Nervous System _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aKRIT1 Protein |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xgenetics |
| 650 | 0 | 4 |
_aProto-Oncogene Proteins _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aRevencu, N | |
| 700 | 1 | _aVan Regemorter, N | |
| 700 | 1 | _aGarzon, M | |
| 700 | 1 | _aBonduelle, M | |
| 700 | 1 | _aChung, W | |
| 700 | 1 | _aDaras, M D | |
| 700 | 1 | _aFahey, M C | |
| 700 | 1 | _aGarrett, C | |
| 700 | 1 | _aGillerot, Y | |
| 700 | 1 | _aGillessen-Kaesbach, G | |
| 700 | 1 | _aGiménez-Arnau, A | |
| 700 | 1 | _aGuzzetta, F | |
| 700 | 1 | _aBattaglia, D | |
| 700 | 1 | _aHeimdal, K | |
| 700 | 1 | _aLissens, W | |
| 700 | 1 | _aTaub, E | |
| 700 | 1 | _aVan Maldergem, L | |
| 700 | 1 | _aVan Paesschen, W | |
| 700 | 1 | _aWieczorek, D | |
| 700 | 1 | _aWood, N W | |
| 700 | 1 | _aBoon, L | |
| 700 | 1 | _aVikkula, M | |
| 773 | 0 |
_tHuman genetics _gvol. 122 _gno. 5 _gp. 552 |
|
| 999 |
_c17883065 _d17883065 |
||