A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard–Soulier syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Hematology,General Medicine
Reference18 articles.
1. Bernard–Soulier syndrome;López;Blood,1998
2. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex;Lanza;Br J Haematol,2002
3. How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard–Soulier syndrome in children and adults;Grainger;Br J Haematol,2018
4. MYH9-related disease: May–Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness;Seri;Medicine (Baltimore),2003
5. Inherited platelet functional disorders: general principles and practical aspects of management;Lee;Transfus Apher Sci,2018
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