Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child
Loss-of-function mutations in the <em>SCN5A</em> gene, encoding the cardiac Nav1.5 sodium channel, have been previously associated with Brugada syndrome (BrS). Despite the low prevalence of the disease, we identified a patient carrying two <em>SCN5A</em> mutations. We aimed at establishing a correla...
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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI AG
2012-09-01
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| Edice: | Cardiogenetics |
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