> Details

Stockley, Jacqueline; Morgan, Neil V.; Bem, Danai; Lowe, Gillian C.; Lordkipanidzé, Marie; Dawood, Ban; Simpson, Michael A.; Macfarlane, Kirsty; Horner, Kevin; Leo, Vincenzo C.; Talks, Katherine; Motwani, Jayashree; Wilde, Jonathan T.; Collins, Peter W.; Makris, Michael; Watson, Steve P.; Daly, Martina E.

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

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  • Media type: E-Article
  • Title: Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects
  • Contributor: Stockley, Jacqueline; Morgan, Neil V.; Bem, Danai; Lowe, Gillian C.; Lordkipanidzé, Marie; Dawood, Ban; Simpson, Michael A.; Macfarlane, Kirsty; Horner, Kevin; Leo, Vincenzo C.; Talks, Katherine; Motwani, Jayashree; Wilde, Jonathan T.; Collins, Peter W.; Makris, Michael; Watson, Steve P.; Daly, Martina E.
  • Published: American Society of Hematology, 2013
  • Published in: Blood, 122 (2013) 25, Seite 4090-4093
  • Language: English
  • DOI: 10.1182/blood-2013-06-506873
  • ISSN: 0006-4971; 1528-0020
  • Origination:
  • Footnote:
  • Description: <jats:title>Key Points</jats:title> <jats:p>Novel FLI1 and RUNX1 alterations were identified in 6 of 13 patients with excessive bleeding and platelet granule secretion defects. Two FLI1 alterations predicting amino acid substitutions in the DNA-binding domain of FLI1 abolished transcriptional activity of FLI1.</jats:p>
  • Access State: Open Access