Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

• Main Authors: Stefanie Scheiper (Author), Brigitte Hertel (Author), Britt-Maria Beckmann (Author), Stefan Kääb (Author), Gerhard Thiel (Author), Silke Kauferstein (Author)
• פורמט: ספר
• יצא לאור: BMC, 2017-10-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > G, p.Y145C) in this gene. The aim...