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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: Stump, Matthew R., Gong, Qiuming, Zhou, Zhengfeng
Médium: Artigo
Jazyk:Inglês
Vydáno: American Physiological Society 2011
Témata:
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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