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

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 unr...

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Publicat a:Nat Commun
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5700076/
https://ncbi.nlm.nih.gov/pubmed/29167417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-01630-0
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