000 | 02336 a2200733 4500 | ||
---|---|---|---|
005 | 20250515120321.0 | ||
264 | 0 | _c20080828 | |
008 | 200808s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.20746 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRevencu, Nicole | |
245 | 0 | 0 |
_aParkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. _h[electronic resource] |
260 |
_bHuman mutation _cJul 2008 |
||
300 |
_a959-65 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aArteriovenous Malformations |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aImmunoglobulin Variable Region _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aRecombinant Proteins _xgenetics |
650 | 0 | 4 | _aSingle-Chain Antibodies |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 |
_aVascular Malformations _xgenetics |
650 | 0 | 4 |
_aVein of Galen Malformations _xgenetics |
650 | 0 | 4 | _ap120 GTPase Activating Protein |
700 | 1 | _aBoon, Laurence M | |
700 | 1 | _aMulliken, John B | |
700 | 1 | _aEnjolras, Odile | |
700 | 1 | _aCordisco, Maria Rosa | |
700 | 1 | _aBurrows, Patricia E | |
700 | 1 | _aClapuyt, Philippe | |
700 | 1 | _aHammer, Frank | |
700 | 1 | _aDubois, Josée | |
700 | 1 | _aBaselga, Eulalia | |
700 | 1 | _aBrancati, Francesco | |
700 | 1 | _aCarder, Robin | |
700 | 1 | _aQuintal, José Miguel Ceballos | |
700 | 1 | _aDallapiccola, Bruno | |
700 | 1 | _aFischer, Gayle | |
700 | 1 | _aFrieden, Ilona J | |
700 | 1 | _aGarzon, Maria | |
700 | 1 | _aHarper, John | |
700 | 1 | _aJohnson-Patel, Jennifer | |
700 | 1 | _aLabrèze, Christine | |
700 | 1 | _aMartorell, Loreto | |
700 | 1 | _aPaltiel, Harriet J | |
700 | 1 | _aPohl, Annette | |
700 | 1 | _aPrendiville, Julie | |
700 | 1 | _aQuere, Isabelle | |
700 | 1 | _aSiegel, Dawn H | |
700 | 1 | _aValente, Enza Maria | |
700 | 1 | _aVan Hagen, Annet | |
700 | 1 | _aVan Hest, Liselot | |
700 | 1 | _aVaux, Keith K | |
700 | 1 | _aVicente, Asuncion | |
700 | 1 | _aWeibel, Lisa | |
700 | 1 | _aChitayat, David | |
700 | 1 | _aVikkula, Miikka | |
773 | 0 |
_tHuman mutation _gvol. 29 _gno. 7 _gp. 959-65 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20746 _zAvailable from publisher's website |
999 |
_c17943283 _d17943283 |