Article
A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS).
Thrombosis and haemostasis - 1 Sept 2005
Liang Hai Po Helena, Morel-Kopp Marie-Christine, Clemetson Jeannine M, Clemetson Kenneth J, Kekomaki Riitta, Kroll Hartmut, Michaelides Katerina, Tuddenham Edward G D, Vanhoorelbeke Karen, Ward Christopher M
Abstract excerpt
Bernard-Soulier syndrome (BSS) is an extremely rare hereditary bleeding disorder, caused by mutations occurring in the Glycoprotein (GP) Ibalpha, GPIbbeta and GP9 genes that encode for the corresponding subunits of platelet GPIb-V-IX adhesion receptor complex. BSS has been reported in many populations, mostly behaving in an autosomal-recessive manner.While the great majority of BSS mutations are unique to a...
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