Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

Dilated cardiomyopathy (DCM) is an important cause of heart failure. Single gene mutations in at least 50 genes have been proposed to account for 25–50% of DCM cases and up to 25% of inherited DCM has been attributed to truncating mutations in the sarcomeric structural protein titin (TTNtv). Whilst...

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Publicat a:Sci Rep
Autors principals: Vikhorev, Petr G., Smoktunowicz, Natalia, Munster, Alex B., Copeland, O’Neal, Kostin, Sawa, Montgiraud, Cecile, Messer, Andrew E., Toliat, Mohammad R., Li, Amy, dos Remedios, Cristobal G., Lal, Sean, Blair, Cheavar A., Campbell, Kenneth S., Guglin, Maya, Richter, Manfred, Knöll, Ralph, Marston, Steven B.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5665940/
https://ncbi.nlm.nih.gov/pubmed/29093449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-13675-8
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