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

Medientyp: E-Artikel
Titel: Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects
Beteiligte: 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.
Erschienen: American Society of Hematology, 2013
Erschienen in: Blood, 122 (2013) 25, Seite 4090-4093
Sprache: Englisch
DOI: 10.1182/blood-2013-06-506873
ISSN: 0006-4971; 1528-0020
Entstehung:
Anmerkungen:
Beschreibung: <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>
Zugangsstatus: Freier Zugang

Nur in Feld suchen: