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Identical Twins with Long QT Syndrome Associated with a Missense Mutation in the S4 Region of the HERG
http://hdl.handle.net/2297/28380
http://hdl.handle.net/2297/283808ec68efc-d0ef-43e9-a3c9-9eca438effd9
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
HO-PR-HAYASHI-K-399.pdf (130.5 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-05 | |||||
| タイトル | ||||||
| タイトル | Identical Twins with Long QT Syndrome Associated with a Missense Mutation in the S4 Region of the HERG | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Hayashi, Kenshi
× Hayashi, Kenshi× Shimizu, Masami× Ino, Hidekazu× Okeie, Kazuyasu× Yamaguchi, Masato× Yasuda, Toshihiko× Fujino, Noboru× Fujii, Hiroyuki× Fujita, Shinichiro× Mabuchi, Hiroshi |
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| 提供者所属 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 金沢大学附属病院検査部 | |||||
| 書誌情報 |
Japanese Heart Journal 巻 41, 号 3, p. 399-404, 発行日 2000-03-01 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0021-4868 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00690786 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1536/jhj.41.399 | |||||
| 出版者 | ||||||
| 出版者 | Japanese Heart Journal Association | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Familial long QT syndrome (LQTS) is caused by mutations in genes encoding ion channels important in determining ventricular repolarization. Mutations in at least five genes have been associated with the LQTS. Fire genes, KCNQ1, HERG, SCN5A, KCNE1, and KCNE2, have been identified. We have identified a missense mutation in the HERG gene in identical twins in a Japanese family with LQTS. The identical twins in our study had QT prolongation and the same missense mutation. However only the proband had a history of syncope. Although many mutations in LQT genes have been reported, there are few reports of twins with LQTS. This is the first report, to our knowledge, of identical twins with a HERG gene mutation. | |||||
| 権利 | ||||||
| 権利情報 | Copyright (c) 2000 by the Japanese Heart Journal | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
