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Deregulated Ca(2+) cycling underlies the development of arrhythmia and heart disease due to mutant obscurin
Obscurins are cytoskeletal proteins with structural and regulatory roles encoded by OBSCN. Mutations in OBSCN are associated with the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Specifically, the R4344Q mutation present in immunoglobulin domain 58 (Ig58) was th...
Autores principales: | Hu, Li-Yen R., Ackermann, Maegen A., Hecker, Peter A., Prosser, Benjamin L., King, Brendan, O’Connell, Kelly A., Grogan, Alyssa, Meyer, Logan C., Berndsen, Christopher E., Wright, Nathan T., Jonathan Lederer, W., Kontrogianni-Konstantopoulos, Aikaterini |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association for the Advancement of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462502/ https://www.ncbi.nlm.nih.gov/pubmed/28630914 http://dx.doi.org/10.1126/sciadv.1603081 |
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