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Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy
Mutations in the human ether-à-go-go-related gene (hERG) are responsible for long-QT syndrome (LQTS) type 2 (LQT2). In the present study, a heterozygous missense mutation (A561V) linked to LQT2, syncope and epilepsy was identified in the S5/pore region of the hERG protein. The mutation, A561V, was p...
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| 出版年: | Mol Med Rep |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
D.A. Spandidos
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4768985/ https://ncbi.nlm.nih.gov/pubmed/26847485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.4859 |
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