Prevalence and cardiac phenotype of patients with a phospholamban mutation

Pathogenic mutations in the phospholamban (PLN) gene may give rise to inherited cardiomyopathies due to its role in calcium homeostasis. Several PLN mutations have been identified, with the R14del mutation being the most prevalent cardiomyopathy-related mutation in the Netherlands. It is present in...

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Detalles Bibliográficos
Autores principales: Hof, I. E., van der Heijden, J. F., Kranias, E. G., Sanoudou, D., de Boer, R. A., van Tintelen, J. P., van der Zwaag, P. A., Doevendans, P. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2018
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352623/
https://www.ncbi.nlm.nih.gov/pubmed/30547415
http://dx.doi.org/10.1007/s12471-018-1211-4

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