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A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
Our understanding of the genetic basis of disease has expanded with the identification of rare DNA sequence variations (“mutations”) that evoke inherited syndromes such as cystic fibrosis, congenital epilepsy, and cardiac arrhythmias. Common sequence variants (“polymorphisms”) have also been implica...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2003
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC151865/ https://ncbi.nlm.nih.gov/pubmed/12569159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200316879 |
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