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Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation

Timothy Syndrome (TS) is a multisystem disorder, prominently featuring cardiac action potential prolongation with paroxysms of life-threatening arrhythmias. The underlying defect is a single de novo missense mutation in Ca(V)1.2 channels, either G406R or G402S. Notably, these mutations are often vie...

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Pubblicato in:Nat Commun
Autori principali: Dick, Ivy E., Joshi-Mukherjee, Rosy, Yang, Wanjun, Yue, David T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4740114/
https://ncbi.nlm.nih.gov/pubmed/26822303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms10370
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