Article
Channelopathies: ion channel defects linked to heritable clinical disorders.
Journal of medical genetics - 1 Oct 2000
Felix R
Abstract excerpt
Electrical signals are critical for the function of neurones, muscle cells, and cardiac myocytes. Proteins that regulate electrical signalling in these cells, including voltage gated ion channels, are logical sites where abnormality might lead to disease. Genetic and biophysical approaches are being used to show that several disorders result from mutations in voltage gated ion channels. Understanding gained from...
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