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The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated with Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac diseases; it is primarily caused by mutations in sarcomeric genes. However, HCM is also associated with mutations in non-sarcomeric proteins and a Finnish founder mutation for HCM in non-sarcomeric protein junctophilin-2 (JP...

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Detalles Bibliográficos
Autores principales: Valtonen, Joona, Prajapati, Chandra, Cherian, Reeja Maria, Vanninen, Sari, Ojala, Marisa, Leivo, Krista, Heliö, Tiina, Koskenvuo, Juha, Aalto-Setälä, Katriina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10295168/
https://www.ncbi.nlm.nih.gov/pubmed/37371654
http://dx.doi.org/10.3390/biomedicines11061558