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Article

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.

Circulation research - 31 Oct 2003

Makielski Jonathan C, Ye Bin, Valdivia Carmen R, Pagel Matthew D, Pu Jielin, Tester David J, Ackerman Michael J

Abstract excerpt

Amino acid sequence variations in SCN5A are known to affect function of wild-type channels and also those with coexisting mutations; therefore, it is important to know the exact sequence and function of channels most commonly present in human myocardium. SCN5A was analyzed in control panels of human alleles, demonstrating that the existing clones (hH1, hH1a, hH1b) each contained a rare variant and thus none...

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PMID: 14500339
DOI: 10.1161/01.RES.0000096652.14509.96

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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