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Article

Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

2002-10-15

Abstract excerpt

The function of the 12 positive charges in the 53-residue III/IV interdomain linker of the cardiac Na+ channel is unclear. We have identified a four-generation family, including 17 gene carriers with long QT syndrome, Brugada syndrome, and conduction system disease with deletion of lysine 1500 (ΔK1500) within the linker. Three family members died suddenly. We have examined the functional consequences of this mutat...

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Literature Corpus work
ec1ae21e-6b46-58d0-9dc2-75afb6df1dc3
DOI
10.1172/jci0215570
Open publication

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Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutationDOI 10.1172/jci0215570
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