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Coexistence of Andersen–Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family

BACKGROUND: Andersen–Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Ris...

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Detaylı Bibliyografya
Yayımlandı:Ann Noninvasive Electrocardiol
Asıl Yazarlar: Jagodzińska, Michalina, Szperl, Małgorzata, Ponińska, Joanna, Kosiec, Agnieszka, Gajda, Robert, Kukla, Piotr, Biernacka, Elżbieta Katarzyna
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2015
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6931717/
https://ncbi.nlm.nih.gov/pubmed/26109178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/anec.12283
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