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- W2482594811 abstract "The understanding of molecular bases of cardiac excitability and, in parallel, that of genetic determinants of inherited arrhythmogenic diseases, has grown dramatically thanks to the efforts of several groups of scientists worldwide. Genetic diseases are powerful experiments of nature. The clinical recognition of inherited arrhythmic disorders has offered informative inroads into the pathways that orchestrate cardiac electrical activity in health and disease. In single gene disorders, a mutation in one specific coding sequence is sufficient to overcome the sophisticated homeostatic networks regulating normal physiology. Molecular genetic studies identified the key genes underlying specific ionic conductances and have framed many of our current concepts of arrhythmogenesis. In this chapter we provide a comprehensive overview of the clinical presentation, therapy and genotype-phenotype correlations of inherited disease. Furthermore we also include updated information on genes and their transcriptional regulation, ion channel function, assembly, transport, and their interactors for signal transduction." @default.
- W2482594811 created "2016-08-23" @default.
- W2482594811 creator A5008966758 @default.
- W2482594811 creator A5021196395 @default.
- W2482594811 creator A5052863636 @default.
- W2482594811 date "2012-01-01" @default.
- W2482594811 modified "2023-09-23" @default.
- W2482594811 title "Genetic Mechanisms of Arrhythmia" @default.
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