Article
Dominant non-coding repeat expansions in human disease.
Genome dynamics - 1 Jan 2006
Dick K A, Margolis J M, Day J W, Ranum L P W
Abstract excerpt
The general model that dominant diseases are caused by mutations that result in a gain or change in function of the corresponding protein was challenged by the discovery that the myotonic dystrophy type 1 mutation is a CTG expansion located in the 3' untranslated portion of a kinase gene. The subsequent discovery that a similar transcribed but untranslated CCTG expansion in an intron causes the same multisystemic...
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