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Unique Mixed Phenotype and Unexpected Functional Effect Revealed by Novel Compound Heterozygosity Mutations Involving SCN5A
BACKGROUND: Functional characterization of mutations involving the SCN5A-encoded cardiac sodium channel has established the pathogenic mechanisms for type 3 long QT syndrome (LQT3) and type 1 Brugada syndrome and has provided key insights into the physiological importance of essential structure-func...
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| Glavni autori: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2009
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3073365/ https://ncbi.nlm.nih.gov/pubmed/19632629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2009.04.034 |
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