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

• Главные авторы: Motoi Nishimura (Автор), Marehiko Ueda (Автор), Ryota Ebata (Автор), Emi Utsuno (Автор), Takuma Ishii (Автор), Kazuyuki Matsushita (Автор), Osamu Ohara (Автор), Naoki Shimojo (Автор), Yoshio Kobayashi (Автор), Fumio Nomura (Автор)
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• Опубликовано: BMC, 2017-06-01T00:00:00Z.
• Предметы: article
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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...