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MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes

AIMS: In long QT syndrome (LQTS) patients, modifier genes modulate the arrhythmic risk associated with a disease-causing mutation. Their recognition can improve risk stratification and clinical management, but their discovery represents a challenge. We tested whether a cellular-driven approach could...

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Detalles Bibliográficos
Autores principales: Lee, Yee-Ki, Sala, Luca, Mura, Manuela, Rocchetti, Marcella, Pedrazzini, Matteo, Ran, Xinru, Mak, Timothy S H, Crotti, Lia, Sham, Pak C, Torre, Eleonora, Zaza, Antonio, Schwartz, Peter J, Tse, Hung-Fat, Gnecchi, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898949/
https://www.ncbi.nlm.nih.gov/pubmed/32173736
http://dx.doi.org/10.1093/cvr/cvaa019

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