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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Bibliografiska uppgifter
Huvudupphovsmän: Pinto, Jose Renato, Siegfried, Jill D., Parvatiyar, Michelle S., Li, Duanxiang, Norton, Nadine, Jones, Michelle A., Liang, Jingsheng, Potter, James D., Hershberger, Ray E.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Biochemistry and Molecular Biology 2011
Ämnen:
Molecular Bases of Disease
Länkar: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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