Article
From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation.
Human genomics - 1 Jun 2006
Stranger Barbara E, Dermitzakis Emmanouil T
Abstract excerpt
Much of the focus of human disease genetics is directed towards identifying nucleotide variants that contribute to disease phenotypes. This is a complex problem, often involving contributions from multiple loci and their interactions, as well as effects due to environmental factors. Although some diseases with a genetic basis are caused by nucleotide changes that alter an amino acid sequence, in other cases,...
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