Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

BACKGROUND: Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in the phospholamban (PLN) gene can be identified in 10–15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The arrhythmogenic burden of the p.Arg14del mutation was illustrated by the high r...

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Hlavní autoři: van der Zwaag, P. A., van Rijsingen, I. A. W., de Ruiter, R., Nannenberg, E. A., Groeneweg, J. A., Post, J. G., Hauer, R. N. W., van Gelder, I. C., van den Berg, M. P., van der Harst, P., Wilde, A. A. M., van Tintelen, J. P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Bohn Stafleu van Loghum 2013
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3661879/
https://ncbi.nlm.nih.gov/pubmed/23568436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-013-0401-3
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