000			02206 a2200661 4500
005			20250515231948.0
264		0	_c20100901
008			201009s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2010.06.015 _2doi
040			_aNLM _beng _cNLM
100	1		_aMartinelli, Simone
245	0	0	_aHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. _h[electronic resource]
260			_bAmerican journal of human genetics _cAug 2010
300			_a250-7 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Substitution _xgenetics
650	0	4	_aBase Sequence
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFemale
650	0	4	_aGerm-Line Mutation _xgenetics
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutant Proteins _xgenetics
650	0	4	_aNoonan Syndrome _xgenetics
650	0	4	_aPhenotype
650	0	4	_aProto-Oncogene Proteins c-cbl _xgenetics
650	0	4	_aTumor Suppressor Proteins _xgenetics
700	1		_aDe Luca, Alessandro
700	1		_aStellacci, Emilia
700	1		_aRossi, Cesare
700	1		_aChecquolo, Saula
700	1		_aLepri, Francesca
700	1		_aCaputo, Viviana
700	1		_aSilvano, Marianna
700	1		_aBuscherini, Francesco
700	1		_aConsoli, Federica
700	1		_aFerrara, Grazia
700	1		_aDigilio, Maria C
700	1		_aCavaliere, Maria L
700	1		_avan Hagen, Johanna M
700	1		_aZampino, Giuseppe
700	1		_avan der Burgt, Ineke
700	1		_aFerrero, Giovanni B
700	1		_aMazzanti, Laura
700	1		_aScrepanti, Isabella
700	1		_aYntema, Helger G
700	1		_aNillesen, Willy M
700	1		_aSavarirayan, Ravi
700	1		_aZenker, Martin
700	1		_aDallapiccola, Bruno
700	1		_aGelb, Bruce D
700	1		_aTartaglia, Marco
773	0		_tAmerican journal of human genetics _gvol. 87 _gno. 2 _gp. 250-7
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2010.06.015 _zAvailable from publisher's website
999			_c19962694 _d19962694