Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Laura Lalaguna"'
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9789811956416
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf001ea516c44fc5db335df8a921e754
https://doi.org/10.1007/978-981-19-5642-3_8
https://doi.org/10.1007/978-981-19-5642-3_8
Publikováno v:
Advances in experimental medicine and biology. 1396
Inherited arrhythmic disorders are a group of heterogeneous diseases predisposing to life-threatening arrhythmias and sudden cardiac death. Their diagnosis is not always simple due to incomplete penetrance and genetic heterogeneity. Furthermore, the
Autor:
Pablo García-Pavía, Marta Román, Elísabet Bello-Arroyo, Marina López-Olañeta, Javier Segovia-Cubero, Ana Briceño, Laura Padron-Barthe, Fernando Dominguez, Esther Gonzalez-Lopez, María Villalba-Orero, Enrique Lara-Pezzi, Laura Lalaguna
Publikováno v:
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
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Background: Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is an inherited cardiac disease with complete penetrance and an aggressive clinical course caused by mutations in TMEM43 (transmembrane protein 43). There is no cure for ARVC5
Autor:
Simon Sedej, Torsten Bloch Rasmussen, Fernando Domínguez, Jose Maria Garcia-Aznar, Jesús Vázquez, Ana Briceño, Jesús Piqueras-Flores, Jorge Alegre-Cebollada, Giovanna Giovinazzo, Elías Herrero-Galán, Enrique Calvo, Carmen Suay-Corredera, David Giganti, Mahmoud Abdellatif, Juan A. Bernal, Inmaculada Vivo-Ortega, Francisco Gutiérrez-Agüera, Natalia Vicente, Belén Bornstein, Esther Gonzalez-Lopez, Thomas Morris Hey, Enrique Lara-Pezzi, Diana Velázquez-Carreras, Peter P. Rainer, Ángel Fernández-Trasancos, Laura Lalaguna, Belén Prados, Inés Martínez-Martín, Raul Perez-Jimenez, Pablo García-Pavía, Juan Pablo Ochoa, Claudio Badía Careaga, Maria Rosaria Pricolo, Elena Bonzón-Kulichenko, Marta Cobo-Marcos, Cristina Sánchez-González
The protein titin determines cardiomyocyte contraction and truncating variants in the titin gene (TTN) are the most common cause of dilated cardiomyopathy (DCM). Different to truncations, missense variants inTTNare currently classified as variants of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c2571241a29bddee113f7f8e5cf49fd
https://doi.org/10.1101/2020.09.05.282913
https://doi.org/10.1101/2020.09.05.282913