A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

• Główni autorzy: Motoi Nishimura (Autor), Marehiko Ueda (Autor), Ryota Ebata (Autor), Emi Utsuno (Autor), Takuma Ishii (Autor), Kazuyuki Matsushita (Autor), Osamu Ohara (Autor), Naoki Shimojo (Autor), Yoshio Kobayashi (Autor), Fumio Nomura (Autor)
• Format: Książka
• Wydane: BMC, 2017-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense va...