KCNH2遺伝子にde novo新規ナンセンス変異(c.1490G>A, p.Trp497Ter)を認めたQT延長症候群の1症例
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- Material Type
- 記事
- Author/Editor
- 日高 玲奈末廣 寛児玉 雅季福田 昌和國宗 勇希岡山 直子中原 由紀子西岡 光昭小林 茂樹矢野 雅文山﨑 隆弘
- Alternative Title
- A Case of Long QT Syndrome with a De Novo Novel Nonsense Mutation (c.1490G>A, p.Trp497Ter) in the KCNH2 gene
- Periodical title
- 山口医学 = Yamaguchi medical journal / 山口大学医学会 編
- No. or year of volume/issue
- 72(3):2023.9
- Volume
- 72
- Issue
- 3
- Pages
- 111-122