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Article

Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.

Nature communications - 22 Nov 2017

Thorsen Kasper, Dam Vibeke S, Kjaer-Sorensen Kasper, Pedersen Lisbeth N, Skeberdis V Arvydas, Jurevičius Jonas, Treinys Rimantas, Petersen Ida M B S, Nielsen Morten S, Oxvig Claus, Morth J Preben, Matchkov Vladimir V, Aalkjær Christian, Bundgaard Henning, Jensen Henrik K

Abstract excerpt

Patients with short QT syndrome (SQTS) may present with syncope, ventricular fibrillation or sudden cardiac death. Six SQTS susceptibility genes, encoding cation channels, explain <25% of SQTS cases. Here we identify a missense mutation in the anion exchanger (AE3)-encoding SLC4A3 gene in two unrelated families with SQTS. The mutation causes reduced surface expression of AE3 and reduced membrane bicarbonate...

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Identifiers

PMID: 29167417
DOI: 10.1038/s41467-017-01630-0
PMCID: PMC5700076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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