The genetic architecture of Plakophilin 2 cardiomyopathy

PURPOSE: The genetic architecture of Plakophilin 2 (PKP2) cardiomyopathy can inform our understanding of its variant pathogenicity and protein function. METHODS: We assess the gene-wide and regional association of truncating and missense variants in PKP2 with arrhythmogenic cardiomyopathy (ACM), and...

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Detalles Bibliográficos
Autores principales: Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D. H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486657/
https://www.ncbi.nlm.nih.gov/pubmed/34120153
http://dx.doi.org/10.1038/s41436-021-01233-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486657/
https://www.ncbi.nlm.nih.gov/pubmed/34120153
http://dx.doi.org/10.1038/s41436-021-01233-7

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