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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...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bohn Stafleu van Loghum
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3661879/ https://www.ncbi.nlm.nih.gov/pubmed/23568436 http://dx.doi.org/10.1007/s12471-013-0401-3 |
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