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Listar02.01.01. Investigación y comunicación científica por tema "NAV1.5 Voltage-Gated Sodium Channel/genetics"

Listar02.01.01. Investigación y comunicación científica por tema "NAV1.5 Voltage-Gated Sodium Channel/genetics"

Ordenar por:Orden:Resultados:

  • Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome 
    Moscoso, Isabel; Serrano-Cruz, Valentina; Cebro-Marquez, María; Vilar-Sánchez, Marta-E; Vidal-Abeijon, Iria; Brion, María; Blanco-Verea, Alejandro; Martínez-Campelo, Laura; Feijoo-Bandin, Sandra; Jiménez-Ramos, Victor; Gimeno-Blanes, Juan-Ramón; Sabater-Molina, María; Jiménez-Jaimez, Juan; González-Juanatey, José-Ramón; Rodríguez-Manero, Moises; Lage, Ricardo (NATURE PORTFOLIO, 2025-10-22)
    Brugada syndrome (BrS) is an inherited cardiac disorder characterized by electrical disturbances. Pathogenic variants in the SCN5A gene are implicated in 25-30% of probands. Although loss-of-function mutations in SCN5A ...
  • Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome 
    Martínez-Campelo, Laura; Cruz, Raquel; Blanco-Verea, Alejandro; Moscoso, Isabel; Ramos-Luis, Eva; Lage, Ricardo; Álvarez-Barredo, María; Sabater-Molina, María; Penafiel-Verdu, Pablo; Jiménez-Jaimez, Juan; Rodríguez-Manero, Moisés; Brion, María (PUBLIC LIBRARY SCIENCE, 2022-03)
    In Brugada syndrome, even within the same family where all affected individuals share the same mutation, phenotypic variation is prominent, with variable penetrance and expressivity, presenting different degrees of ...

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