Browsing by Author "Domínguez, Fernando"

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  • Suay-Corredera, Carmen; Pricolo, Maria Rosaria; Herrero-Galán, Elías; Velázquez-Carreras, Diana; Sánchez-Ortiz, David; García-Giustiniani, Diego; Delgado Blanco, Javier; Galano-Frutos, Juan José; García-Cebollada, Helena; Vilches, Silvia; Domínguez, Fernando; Sabater Molina, María; Barriales-Villa, Roberto; Frisso, Giulia; Sancho, Javier; Serrano Pubull, Luis, 1982-; García-Pavía, Pablo; Monserrat, Lorenzo; Alegre-Cebollada, Jorge (Elsevier, 2021)
    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity ...
  • Martínez-Martín, Inés; Crousilles, Audrey; Ochoa, Juan Pablo; Velázquez-Carreras, Diana; Mortensen, Simon A.; Herrero-Galán, Elías; Delgado Blanco, Javier; Domínguez, Fernando; García-Pavía, Pablo; Sancho, David de; Wilmanns, Matthias; Alegre-Cebollada, Jorge (Elsevier, 2023)
    The underlying genetic defect in most cases of dilated cardiomyopathy (DCM), a common inherited heart disease, remains unknown. Intriguingly, many patients carry single missense variants of uncertain pathogenicity targeting ...

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