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

• 主要な著者: Stefanie Scheiper (著者), Brigitte Hertel (著者), Britt-Maria Beckmann (著者), Stefan Kääb (著者), Gerhard Thiel (著者), Silke Kauferstein (著者)
• フォーマット: 図書
• 出版事項: BMC, 2017-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...