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A nonsense SCN5A mutation associated with Brugada type ECG and intraventricular conduction defects
Mutations of SCN5A, gene encoding α-subunit of cardiac sodium channel, can cause mixed phenotypes of Brugada syndrome (BrS) and cardiac conduction diseases (CCD). We have identified a nucleotide change of SCN5A (4178T>G) which results in a nonsense mutation, L1393X, in a 36 year-old Caucasian man...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2009
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2747666/ https://ncbi.nlm.nih.gov/pubmed/19719504 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1540-8159.2009.02470.x |
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