A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy

The sarcoplasmic reticulum Ca(2+)-cycling proteins are key regulators of cardiac contractility, and alterations in sarcoplasmic reticulum Ca(2+)-cycling properties have been shown to be causal of familial cardiomyopathies. Through genetic screening of dilated cardiomyopathy patients, we identified a...

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Autori principali: Haghighi, Kobra, Kolokathis, Fotis, Gramolini, Anthony O., Waggoner, Jason R., Pater, Luke, Lynch, Roy A., Fan, Guo-Chang, Tsiapras, Dimitris, Parekh, Rohan R., Dorn, Gerald W., MacLennan, David H., Kremastinos, Dimitrios Th., Kranias, Evangelia G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2006
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1360586/
https://ncbi.nlm.nih.gov/pubmed/16432188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0510519103
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