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ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium

Francisco Bermúdez-Jiménez, Víctor Carriel, Juan José Santos-Mateo, Adrián Fernández, Soledad García-Hernández, Karina Analía Ramos, Jesús Piqueras‐Flores, Eva Cabrera-Romero, Roberto Barriales‐Villa, Luis de la Higuera Romero, J.E. Alcalá López, Juan Ramón Gimeno Blanes, David Sánchez‐Porras, Fernando Campos, Miguel Alaminos, José Manuel Oyonarte-Ramírez, Miguel Álvarez, Luís Tercedor, Andreas Brodehl, Juan Jiménez‐Jáimez

2022Revista Española de Cardiología (English Edition)13 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationFilaminCardiomyopathyHypertrophic cardiomyopathyPhenotypeRestrictive cardiomyopathyMedicineBiologyGeneticsInternal medicineHeart failureGeneCytoskeletonCellCardiomyopathy and Myosin StudiesLysosomal Storage Disorders ResearchSkin and Cellular Biology Research
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium | Litcius