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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700076/
https://www.ncbi.nlm.nih.gov/pubmed/29167417
http://dx.doi.org/10.1038/s41467-017-01630-0

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