Article
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
The Journal of clinical investigation - 1 Feb 2003
Viswanathan Prakash C, Benson D Woodrow, Balser Jeffrey R
Abstract excerpt
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 implicated as risk factors in multiple diseases. Mutations in SCN5A, the cardiac Na(+) channel gene, that cause a reduction...
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