000 01624 a2200553 4500
005 20250515114232.0
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 _a551 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 _aMutagenesis, Insertional
650 0 4 _aProto-Oncogene Proteins
_xgenetics
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. 551
999 _c17883051
_d17883051