Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy

European Journal of Medical Genetics

Volumn 56, Issue 10, 2013, Pages 541-545

  Campuzano, Oscar ^a   Alcalde, Mireia ^a   Berne, Paola ^b   Zorio, Esther ^c   Iglesias, Anna ^a   Navarro Manchón, Josep ^c   Brugada, Josep ^b   Brugada, Ramon ^a  

^a Cardiovascular Genetics Center   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Desmoplakin; Genetic testing; Sudden cardiac death

Indexed keywords

ADOLESCENT; ADULT; AGED; ARRHYTHMOGENESIS; ARTICLE; AUTOPSY; CLINICAL ARTICLE; ELECTROCARDIOGRAM; EXERCISE TEST; FEMALE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HEART RIGHT VENTRICLE DYSPLASIA; HOLTER MONITORING; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; SUDDEN CARDIAC DEATH; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; DESMOPLAKIN; GENETIC TESTING; SUDDEN CARDIAC DEATH;

ADOLESCENT; ADULT; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BASE SEQUENCE; CHILD; CODON, NONSENSE; DESMOPLAKINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; PEDIGREE;

EID: 84885382579     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.08.001     Document Type: Article

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