학술논문
A dominant-negative GFI1B mutation in the gray platelet syndrome
Document Type
Report
Author
Van der Reijden, Bert A.; Van Laer, Lut; Loeys, Bart L.; Kempers, Marlies J.E.; Jansen, Joop; Van Heerde, Waander; Preijers, Frank; Huls, Gerwin; Willemsen, Brigith; Salemink, Simone; Duijnhouwer, Anthonie L.; Botezatu, Lacramiora; Bolar, Nikhita A.; Marneth, Anna E.; Monteferrario, Davide; Hebeda, Konnie M.; Veenstra, Hans; Bergevoet, Saskia M.; Laros-van Gorkom, Britta A.P.; MacKenzie, Marius A.; Khandanpour, Cyrus; Van Camp, Guy; Fransen, Erik
Source
The New England Journal of Medicine. Jan 16, 2014, Vol. 370 Issue 3, p245, 9 p.
Subject
Language
English
ISSN
0028-4793
Abstract
The key role that a dominant - negative gene encoding the transcription factor GFI1B (growth factor independent 1B) mutation plays in the gray platelet syndrome is discussed. Other phenomena associated with the gray platelet syndrome are highlighted.