Recurrent mutation Asn45 → Ser of glycoprotein IX in Bernard-Soulier syndrome
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.1996.tb01357.x/fullpdf
Reference8 articles.
1. Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium: further implications on the role of the von Willebrand factor in hemostasis;Weiss;Am J Med,1974
2. The α and β chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence;Lopez;Proc Natl Acad Sci,1988
3. Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures;Hickey;Proc Natl Acad Sci,1989
4. Cloning and characterization of the gene encoding the human platelet glycoprotein V;Lanza;J Biol Chem,1993
5. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome;Wright;Blood,1993
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1. Platelet Adhesive Protein Defect Disorders;Platelets in Thrombotic and Non-Thrombotic Disorders;2017
2. Spectrum of the Mutations in Bernard-Soulier Syndrome;Human Mutation;2014-07-15
3. Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen;International Journal of Hematology;2012-11-11
4. Phosphatidylserine exposure and other apoptotic-like events in Bernard-Soulier syndrome platelets;American Journal of Hematology;2010-05-23
5. Molecular characterization of two mutations in platelet glycoprotein (GP) Ibα in two Finnish Bernard-Soulier syndrome families;European Journal of Haematology;2009-04-24
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