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Fetal Cardiac Troponin Isoforms Rescue the Increased Ca(2+) Sensitivity Produced by a Novel Double Deletion in Cardiac Troponin T Linked to Restrictive Cardiomyopathy: A CLINICAL, GENETIC, AND FUNCTIONAL APPROACH
A novel double deletion in cardiac troponin T (cTnT) of two highly conserved amino acids (Asn-100 and Glu-101) was found in a restrictive cardiomyopathic (RCM) pediatric patient. Clinical evaluation revealed the presence of left atrial enlargement and marked left ventricle diastolic dysfunction. The...
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Main Authors: | , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
American Society for Biochemistry and Molecular Biology
2011
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3121488/ https://ncbi.nlm.nih.gov/pubmed/21502316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.234336 |
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