Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

BACKGROUND: About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I (TNNI3). The related clinical phenotype is usually severe with early onset. Here we report on all currently known mutations in the Dutch population and compared these with those d...

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Detalles Bibliográficos
Autores principales: van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2011
Materias:
Special Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144325/
https://www.ncbi.nlm.nih.gov/pubmed/21533915
http://dx.doi.org/10.1007/s12471-011-0135-z

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