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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Publicat a:Neth Heart J
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Bohn Stafleu van Loghum 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6352623/
https://ncbi.nlm.nih.gov/pubmed/30547415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-018-1211-4
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