Gain‐of‐function mutation in TASK‐4 channels and severe cardiac conduction disorder
Gain‐of‐function mutation in TASK‐4 channels and severe cardiac conduction disorder
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London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Analyzing a patient with progressive and severe cardiac conduction disorder combined with idiopathic ventricular fibrillation (IVF), we identified a splice site mutation in the sodium channel gene
SCN5A
. Due to the severe phenotype, we performed whole‐exome sequencing (WES) and identified an additional mutation in the
KCNK17
gene encod...
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Full title
Gain‐of‐function mutation in TASK‐4 channels and severe cardiac conduction disorder
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TN_cdi_doaj_primary_oai_doaj_org_article_138f656725774f4ebb85eeb5736a7a6d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_138f656725774f4ebb85eeb5736a7a6d
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201303783
