000 02065 a2200637 4500
005 20250516141006.0
264 0 _c20140507
008 201405s 0 0 eng d
022 _a1476-5438
024 7 _a10.1038/ejhg.2013.39
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLi Mura, Ilena Egle Astrid
245 0 0 _aIdentification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cNov 2013
300 _a1226-31 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aAged, 80 and over
650 0 4 _aArrhythmogenic Right Ventricular Dysplasia
_xdiagnostic imaging
650 0 4 _aChromosomes, Human, Pair 12
_xgenetics
650 0 4 _aDNA Copy Number Variations
650 0 4 _aFamily
650 0 4 _aFemale
650 0 4 _aGene Deletion
650 0 4 _aGene Dosage
_xgenetics
650 0 4 _aGenetic Linkage
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aPedigree
650 0 4 _aPlakophilins
_xgenetics
650 0 4 _aReal-Time Polymerase Chain Reaction
650 0 4 _aUltrasonography
650 0 4 _aYoung Adult
700 1 _aBauce, Barbara
700 1 _aNava, Andrea
700 1 _aFanciulli, Manuela
700 1 _aVazza, Giovanni
700 1 _aMazzotti, Elisa
700 1 _aRigato, Ilaria
700 1 _aDe Bortoli, Marzia
700 1 _aBeffagna, Giorgia
700 1 _aLorenzon, Alessandra
700 1 _aCalore, Martina
700 1 _aDazzo, Emanuela
700 1 _aNobile, Carlo
700 1 _aMostacciuolo, Maria Luisa
700 1 _aCorrado, Domenico
700 1 _aBasso, Cristina
700 1 _aDaliento, Luciano
700 1 _aThiene, Gaetano
700 1 _aRampazzo, Alessandra
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 21
_gno. 11
_gp. 1226-31
856 4 0 _uhttps://doi.org/10.1038/ejhg.2013.39
_zAvailable from publisher's website
999 _c22578047
_d22578047