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Article

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

Cardiovascular research - 1 Dec 2007

Tan Bi-Hua, Iturralde-Torres Pedro, Medeiros-Domingo Argelia, Nava Santiago, Tester David J, Valdivia Carmen R, Tusié-Luna Teresa, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

OBJECTIVES: Individual mutations in the SCN5A-encoding cardiac sodium channel alpha-subunit cause single cardiac arrhythmia disorders, but a few cause multiple distinct disorders. Here we report a family harboring an SCN5A mutation (L1821fs/10) causing a truncation of the C-terminus with a marked and complex biophysical phenotype and a corresponding variable and complex clinical phenotype with variable...

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Source

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Identifiers

PMID: 17897635
DOI: 10.1016/j.cardiores.2007.08.006
PMCID: PMC2100438

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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