Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three

  title={Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three},
  author={Rahul C. Deo},
  booktitle={Circulation. Cardiovascular genetics},
  • Rahul C. Deo
  • Published 2016 in Circulation. Cardiovascular genetics
BACKGROUND Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy. Detailed studies have amassed a wealth of information about truncating variant position in cases and controls. Nonetheless, considerable confusion exists as to how to interpret the pathogenicity of these variants, hindering our ability to make useful recommendations to patients. METHODS AND RESULTS Building on our recent discovery of a conserved internal… CONTINUE READING
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