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Article

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.

Proceedings of the National Academy of Sciences of the United States of America - 15 Jun 2004

Mohler Peter J, Splawski Igor, Napolitano Carlo, Bottelli Georgia, Sharpe Leah, Timothy Katherine, Priori Silvia G, Keating Mark T, Bennett Vann

Abstract excerpt

220-kDa ankyrin-B is required for coordinated assembly of Na/Ca exchanger, Na/K ATPase, and inositol trisphosphate (InsP(3)) receptor at transverse-tubule/sarcoplasmic reticulum sites in cardiomyocytes. A loss-of-function mutation of ankyrin-B identified in an extended kindred causes a dominantly inherited cardiac arrhythmia, initially described as type 4 long QT syndrome. Here we report the identification of...

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Identifiers

PMID: 15178757
DOI: 10.1073/pnas.0402546101
PMCID: PMC428486

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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