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Genotype‐specific pathogenic effects in human dilated cardiomyopathy

KEY POINTS: Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3(p.98trunc) resulted in haploinsufficiency, increased Ca(2+)‐sensitivity and reduced length‐dependent activati...

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Detalles Bibliográficos
Autores principales:	Bollen, Ilse A. E., Schuldt, Maike, Harakalova, Magdalena, Vink, Aryan, Asselbergs, Folkert W., Pinto, Jose R., Krüger, Martina, Kuster, Diederik W. D., van der Velden, Jolanda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Cardiovascular
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509872/ https://www.ncbi.nlm.nih.gov/pubmed/28436080 http://dx.doi.org/10.1113/JP274145

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