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Article

A mutation in telethonin alters Nav1.5 function.

The Journal of biological chemistry - 13 Jun 2008

Mazzone Amelia, Strege Peter R, Tester David J, Bernard Cheryl E, Faulkner Georgine, De Giorgio Roberto, Makielski Jonathan C, Stanghellini Vincenzo, Gibbons Simon J, Ackerman Michael J, Farrugia Gianrico

Abstract excerpt

Excitable cells express a variety of ion channels that allow rapid exchange of ions with the extracellular space. Opening of Na(+) channels in excitable cells results in influx of Na(+) and cellular depolarization. The function of Na(v)1.5, an Na(+) channel expressed in the heart, brain, and gast...

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Source

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Identifiers

PMID: 18408010
DOI: 10.1074/jbc.M801744200
PMCID: PMC2423252

Genes

SCN5A
TCAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18408010-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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