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Genotype-phenotype assessment in Autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

Author
PROTONOTARIOS, Nikos1 2 ; TSATSOPOULOU, Adalena1 ; MCKENNA, William3 ; TOUTOUZAS, Paulos2 ; ANASTASAKIS, Aris2 ; SEVDALIS, Elias2 ; MCKOY, Godfrina3 ; STRATOS, Kostas2 ; GATZOULIS, Kostas2 ; TENTOLOURIS, Kostas2 ; SPILIOPOULOU, Chara4 ; PANAGIOTAKOS, Demos2
[1] Yannis Protonotarios Medical Center, Naxos, Greece
[2] Department of Cardiology, University of Athens, Athens, Greece
[3] Department of Cardiological Sciences, St. George's Hospital Medical School, London, United Kingdom
[4] Department of Forensic Medicine and Toxicology, University of Athens, Athens, Greece
Source

Journal of the American College of Cardiology. 2001, Vol 38, Num 5, pp 1477-1484 ; ref : 43 ref

CODEN
JACCDI
ISSN
0735-1097
Scientific domain
Cardiology, blood circulation, phlebology
Publisher
Elsevier Science, New York, NY
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Caractère autosomique Caractère récessif Cardiomyopathie Dysplasie Déterminisme génétique Echocardiographie Electrocardiographie Etude familiale Exploration Gène Génotype Homme Kératodermie Mutation Palmoplantaire Pathogénie Phénotype Trouble rythme cardiaque Ventricule droit Naxos maladie Placoglobine Appareil circulatoire pathologie Cardiopathie Dyskératose Electrodiagnostic Exploration ultrason Hyperkératose Maladie héréditaire Myocarde pathologie Peau pathologie
Keyword (en)
Autosomal character Recessive character Cardiomyopathy Dysplasia Genetic determinism Echocardiography Electrocardiography Family study Exploration Gene Genotype Human Keratoderma Mutation Palmoplantaris Pathogenesis Phenotype Arrhythmia Right ventricle Naxos disease Cardiovascular disease Heart disease Dyskeratosis Electrodiagnosis Sonography Hyperkeratosis Genetic disease Myocardial disease Skin disease
Keyword (es)
Carácter autosómico Carácter recesivo Cardiomiopatía Displasia Determinismo genético Ecocardiografía Electrocardiografía Estudio familiar Exploración Gen Genotipo Hombre Queratodermia Mutación Palmoplantar Patogenia Fenotipo Arritmia Ventrículo derecho Aparato circulatorio patología Cardiopatía Disqueratosis Electrodiagnóstico Exploración ultrasonido Hiperqueratosis Enfermedad hereditaria Miocardio patología Piel patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12A Heart / 002B12A05 Myocarditis. Cardiomyopathies

Discipline
Cardiology. Circulatory system
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
14096205

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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