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Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death
SCN5A mutations have been reported to underlie a variety of inherited arrhythmias, while the complex overlapping phenotype, especially with congenital heart disease (CHD), is rarely reported. The 48-year-old proband underwent a recent syncope during rest. A CHD (tetralogy of Fallot) and conduction d...
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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5375973/ https://ncbi.nlm.nih.gov/pubmed/25010007 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep05616 |
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