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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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| Główni autorzy: | , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Biochemistry and Molecular Biology
2011
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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