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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Nat Commun
Main Authors: 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
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker