| 000 | 01717 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516112746.0 | ||
| 264 | 0 | _c20130520 | |
| 008 | 201305s 0 0 eng d | ||
| 022 | _a1879-0038 | ||
| 024 | 7 |
_a10.1016/j.gene.2012.09.045 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aD'Angelo, Rosalia | |
| 245 | 0 | 0 |
_aIdentification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation? _h[electronic resource] |
| 260 |
_bGene _cApr 2013 |
||
| 300 |
_a202-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 |
_aHemangioma, Cavernous, Central Nervous System _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Restriction Fragment Length |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 | _aReal-Time Polymerase Chain Reaction |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aWhite People _xgenetics |
| 700 | 1 | _aScimone, Concetta | |
| 700 | 1 | _aCalabrò, Marco | |
| 700 | 1 | _aSchettino, Carla | |
| 700 | 1 | _aFratta, Mario | |
| 700 | 1 | _aSidoti, Antonina | |
| 773 | 0 |
_tGene _gvol. 519 _gno. 1 _gp. 202-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gene.2012.09.045 _zAvailable from publisher's website |
| 999 |
_c22125017 _d22125017 |
||