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