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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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書誌詳細
主要な著者: Pinto, Jose Renato, Yang, Shi Wei, Hitz, Marc-Phillip, Parvatiyar, Michelle S., Jones, Michelle A., Liang, Jingsheng, Kokta, Victor, Talajic, Mario, Tremblay, Nicolas, Jaeggi, Michelle, Andelfinger, Gregor, Potter, James D.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2011
主題:
オンライン・アクセス: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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