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A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome
Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effec...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2008
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2346779/ https://ncbi.nlm.nih.gov/pubmed/18272172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2008.01.002 |
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