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Multiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome
Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene (hERG). Cryptic splice site activation in hERG has recently been identified as a novel pathogenic mechanism of LQT2. In this report, we characterize a hERG splice site mutation, 2592+1G>A, which occurs a...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Physiological Society
2011
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| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3023262/ https://ncbi.nlm.nih.gov/pubmed/21057041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpheart.00818.2010 |
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