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Cys209 Ser mutation in the platelet membrane glycoprotein ibα gene is associated with Bernard-Soulier syndrome

✍ Scribed by S. Simsek; P. Noris; M. Lozano; M. Pico; A. E. G. Kr. von dem Borne; A. Ribera; D. Gallardo


Book ID
114713913
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
529 KB
Volume
88
Category
Article
ISSN
0007-1048

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Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations h