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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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Autores principales: Viswanathan, Prakash C., Benson, D. Woodrow, Balser, Jeffrey R.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2003
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Acceso en línea: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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