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LQT2 nonsense mutations generate trafficking defective NH(2)-terminally truncated channels by the reinitiation of translation
The human ether-a-go-go-related gene (hERG) encodes a voltage-activated K(+) channel that contributes to the repolarization of the cardiac action potential. Long QT syndrome type 2 (LQT2) is an autosomal dominant disorder caused by mutations in hERG, and patients with LQT2 are susceptible to severe...
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| Huvudupphovsmän: | , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
American Physiological Society
2013
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3840246/ https://ncbi.nlm.nih.gov/pubmed/23997099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpheart.00304.2013 |
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