| 000 | 02997 a2200985 4500 | ||
|---|---|---|---|
| 005 | 20250516171233.0 | ||
| 264 | 0 | _c20140616 | |
| 008 | 201406s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22431 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRevencu, Nicole | |
| 245 | 0 | 0 |
_aRASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. _h[electronic resource] |
| 260 |
_bHuman mutation _cDec 2013 |
||
| 300 |
_a1632-41 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aArteriovenous Malformations _xdiagnosis |
| 650 | 0 | 4 |
_aCapillaries _xabnormalities |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Order |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPort-Wine Stain _xdiagnosis |
| 650 | 0 | 4 | _aProspective Studies |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_ap120 GTPase Activating Protein _xgenetics |
| 700 | 1 | _aBoon, Laurence M | |
| 700 | 1 | _aMendola, Antonella | |
| 700 | 1 | _aCordisco, Maria Rosa | |
| 700 | 1 | _aDubois, Josée | |
| 700 | 1 | _aClapuyt, Philippe | |
| 700 | 1 | _aHammer, Frank | |
| 700 | 1 | _aAmor, David J | |
| 700 | 1 | _aIrvine, Alan D | |
| 700 | 1 | _aBaselga, Eulalia | |
| 700 | 1 | _aDompmartin, Anne | |
| 700 | 1 | _aSyed, Samira | |
| 700 | 1 | _aMartin-Santiago, Ana | |
| 700 | 1 | _aAdes, Lesley | |
| 700 | 1 | _aCollins, Felicity | |
| 700 | 1 | _aSmith, Janine | |
| 700 | 1 | _aSandaradura, Sarah | |
| 700 | 1 | _aBarrio, Victoria R | |
| 700 | 1 | _aBurrows, Patricia E | |
| 700 | 1 | _aBlei, Francine | |
| 700 | 1 | _aCozzolino, Mariarosaria | |
| 700 | 1 | _aBrunetti-Pierri, Nicola | |
| 700 | 1 | _aVicente, Asuncion | |
| 700 | 1 | _aAbramowicz, Marc | |
| 700 | 1 | _aDésir, Julie | |
| 700 | 1 | _aVilain, Catheline | |
| 700 | 1 | _aChung, Wendy K | |
| 700 | 1 | _aWilson, Ashley | |
| 700 | 1 | _aGardiner, Carol A | |
| 700 | 1 | _aDwight, Yim | |
| 700 | 1 | _aLord, David J E | |
| 700 | 1 | _aFishman, Leona | |
| 700 | 1 | _aCytrynbaum, Cheryl | |
| 700 | 1 | _aChamlin, Sarah | |
| 700 | 1 | _aGhali, Fred | |
| 700 | 1 | _aGilaberte, Yolanda | |
| 700 | 1 | _aJoss, Shelagh | |
| 700 | 1 | _aBoente, Maria Del C | |
| 700 | 1 | _aLéauté-Labrèze, Christine | |
| 700 | 1 | _aDelrue, Marie-Ange | |
| 700 | 1 | _aBayliss, Susan | |
| 700 | 1 | _aMartorell, Loreto | |
| 700 | 1 | _aGonzález-Enseñat, Maria-Antonia | |
| 700 | 1 | _aMazereeuw-Hautier, Juliette | |
| 700 | 1 | _aO'Donnell, Brid | |
| 700 | 1 | _aBessis, Didier | |
| 700 | 1 | _aPyeritz, Reed E | |
| 700 | 1 | _aSalhi, Aicha | |
| 700 | 1 | _aTan, Oon T | |
| 700 | 1 | _aWargon, Orli | |
| 700 | 1 | _aMulliken, John B | |
| 700 | 1 | _aVikkula, Miikka | |
| 773 | 0 |
_tHuman mutation _gvol. 34 _gno. 12 _gp. 1632-41 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22431 _zAvailable from publisher's website |
| 999 |
_c23091033 _d23091033 |
||