Helena Riuró

Firma: Helena Riuró

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

A leading cause of death in western countries is sudden 

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Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

The heritable cardiovascular disorder long QT syndrome (LQTS), characterized by prolongation of the QT interval on electrocardiogram, carries a high risk of sudden cardiac death. We sought to add new data to the existing knowledge of genetic mutations contributing to LQTS to both expand our understanding of its genetic basis and assess the value of genetic testing in clinical decision-making.

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