Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome.
Donnér
M
M
Karpman
D
D
Kristoffersson
A C
AC
Winqvist
I
I
Holmberg
L
L
D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D016296:Mutagenesis; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D017354:Point Mutation
D019038:Platelet Glycoprotein GPIb-IX Complex