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Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes

BACKGROUND: The clinical outcome of hypertrophic cardiomyopathy patients is not only determined by the disease-causing mutation but influenced by a variety of disease modifiers. Here, we defined the role of the mutation location and the mutant protein dose of the troponin T mutations I79N, R94C and...

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Detalles Bibliográficos
Autores principales: Schuldt, Maike, Johnston, Jamie R., He, Huan, Huurman, Roy, Pei, Jiayi, Harakalova, Magdalena, Poggesi, Corrado, Michels, Michelle, Kuster, Diederik W.D., Pinto, Jose R., van der Velden, Jolanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616699/
https://www.ncbi.nlm.nih.gov/pubmed/33148509
http://dx.doi.org/10.1016/j.yjmcc.2020.10.006

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