Article
A dominant-negative GFI1B mutation in the gray platelet syndrome.
The New England journal of medicine - 16 Jan 2014
Monteferrario Davide, Bolar Nikhita A, Marneth Anna E, Hebeda Konnie M, Bergevoet Saskia M, Veenstra Hans, Laros-van Gorkom Britta A P, MacKenzie Marius A, Khandanpour Cyrus, Botezatu Lacramiora, Fransen Erik, Van Camp Guy, Duijnhouwer Anthonie L, Salemink Simone, Willemsen Brigith, Huls Gerwin, Preijers Frank, Van Heerde Waander, Jansen Joop H, Kempers Marlies J E, Loeys Bart L, Van Laer Lut, Van der Reijden Bert A
Abstract excerpt
The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. Both gray platelets and megakaryocytes had abnormal marker expression. In addition, the...
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