000			02425 a2200721 4500
005			20250515073345.0
264		0	_c20070919
008			200709s 0 0 eng d
022			_a1061-4036
024	7		_a10.1038/ng2073 _2doi
040			_aNLM _beng _cNLM
100	1		_aPandit, Bhaswati
245	0	0	_aGain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. _h[electronic resource]
260			_bNature genetics _cAug 2007
300			_a1007-12 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
650	0	4	_aAnimals
650	0	4	_aCOS Cells
650	0	4	_aCardiomyopathy, Hypertrophic _xgenetics
650	0	4	_aChlorocebus aethiops
650	0	4	_aHumans
650	0	4	_aIntracellular Signaling Peptides and Proteins _xgenetics
650	0	4	_aLEOPARD Syndrome _xgenetics
650	0	4	_aMutation, Missense
650	0	4	_aNoonan Syndrome _xgenetics
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aProtein Tyrosine Phosphatase, Non-Receptor Type 11
650	0	4	_aProtein Tyrosine Phosphatases _xgenetics
650	0	4	_aProto-Oncogene Proteins c-raf _xchemistry
650	0	4	_aSignal Transduction
650	0	4	_aTransfection
650	0	4	_aras Proteins _xmetabolism
700	1		_aSarkozy, Anna
700	1		_aPennacchio, Len A
700	1		_aCarta, Claudio
700	1		_aOishi, Kimihiko
700	1		_aMartinelli, Simone
700	1		_aPogna, Edgar A
700	1		_aSchackwitz, Wendy
700	1		_aUstaszewska, Anna
700	1		_aLandstrom, Andrew
700	1		_aBos, J Martijn
700	1		_aOmmen, Steve R
700	1		_aEsposito, Giorgia
700	1		_aLepri, Francesca
700	1		_aFaul, Christian
700	1		_aMundel, Peter
700	1		_aLópez Siguero, Juan P
700	1		_aTenconi, Romano
700	1		_aSelicorni, Angelo
700	1		_aRossi, Cesare
700	1		_aMazzanti, Laura
700	1		_aTorrente, Isabella
700	1		_aMarino, Bruno
700	1		_aDigilio, Maria C
700	1		_aZampino, Giuseppe
700	1		_aAckerman, Michael J
700	1		_aDallapiccola, Bruno
700	1		_aTartaglia, Marco
700	1		_aGelb, Bruce D
773	0		_tNature genetics _gvol. 39 _gno. 8 _gp. 1007-12
856	4	0	_uhttps://doi.org/10.1038/ng2073 _zAvailable from publisher's website
999			_c17139848 _d17139848