Functional Characterization of TNNC1 Rare Variants Identified in Dilated Cardiomyopathy

TNNC1, which encodes cardiac troponin C (cTnC), remains elusive as a dilated cardiomyopathy (DCM) gene. Here, we report the clinical, genetic, and functional characterization of four TNNC1 rare variants (Y5H, M103I, D145E, and I148V), all previously reported by us in association with DCM (Hershberge...

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Detalhes bibliográficos
Main Authors: Pinto, Jose Renato, Siegfried, Jill D., Parvatiyar, Michelle S., Li, Duanxiang, Norton, Nadine, Jones, Michelle A., Liang, Jingsheng, Potter, James D., Hershberger, Ray E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2011
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190822/
https://ncbi.nlm.nih.gov/pubmed/21832052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.267211
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