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Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex
Mutations in 11 genes that encode ion channels or their associated proteins cause inherited long QT syndrome (LQTS) and account for ≈75–80% of cases (LQT1–11). Direct sequencing of SNTA1, the gene encoding α1-syntrophin, was performed in a cohort of LQTS patients that were negative for mutations in...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
National Academy of Sciences
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2442127/ https://ncbi.nlm.nih.gov/pubmed/18591664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0801294105 |
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