> Details

Roberts, Angharad M.; Ware, James S.; Herman, Daniel S.; Schafer, Sebastian; Baksi, John; Bick, Alexander G.; Buchan, Rachel J.; Walsh, Roddy; John, Shibu; Wilkinson, Samuel; Mazzarotto, Francesco; Felkin, Leanne E.; Gong, Sungsam; L. MacArthur, Jacqueline A.; Cunningham, Fiona; Flannick, Jason; Gabriel, Stacey B.; Altshuler, David M.; Macdonald, Peter S.; Heinig, Matthias; Keogh, Anne M.; Hayward, Christopher S.; Banner, Nicholas R.; Pennell, Dudley J.; [...]

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

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  • Media type: E-Article
  • Title: Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
  • Contributor: Roberts, Angharad M.; Ware, James S.; Herman, Daniel S.; Schafer, Sebastian; Baksi, John; Bick, Alexander G.; Buchan, Rachel J.; Walsh, Roddy; John, Shibu; Wilkinson, Samuel; Mazzarotto, Francesco; Felkin, Leanne E.; Gong, Sungsam; L. MacArthur, Jacqueline A.; Cunningham, Fiona; Flannick, Jason; Gabriel, Stacey B.; Altshuler, David M.; Macdonald, Peter S.; Heinig, Matthias; Keogh, Anne M.; Hayward, Christopher S.; Banner, Nicholas R.; Pennell, Dudley J.; [...]
  • imprint: American Association for the Advancement of Science (AAAS), 2015
  • Published in: Science Translational Medicine
  • Language: English
  • DOI: 10.1126/scitranslmed.3010134
  • ISSN: 1946-6234; 1946-6242
  • Origination:
  • Footnote:
  • Description: <jats:p>Truncating variants of the giant protein titin cause dilated cardiomyopathy when they occur toward the protein’s carboxyl terminus and in highly expressed exons.</jats:p>