Article
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
PloS one - 7 Jun 2010
Gui Junhong, Wang Tao, Jones Richard P O, Trump Dorothy, Zimmer Thomas, Lei Ming
Abstract excerpt
BACKGROUND: To identify molecular mechanisms underlying SCN5A-related sick sinus syndrome (SSS), a rare type of SSS, in parallel experiments we elucidated the electrophysiological properties and the cell surface localization of thirteen human Na(v)1.5 (hNa(v)1.5) mutant channels previously linked to this disease. METHODOLOGY/PRINCIPAL FINDINGS: Mutant hNa(v)1.5 channels expressed by HEK293 cells and Xenopus...
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