Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura.
Kunishima
Shinji
S
Yamada
Toshiki
T
Hamaguchi
Motohiro
M
Saito
Hidehiko
H
D019943:Amino Acid Substitution; D001606:Bernard-Soulier Syndrome / Q000175:diagnosis* / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D007564:Japan; D008875:Middle Aged; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D017354:Point Mutation; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis* / Q000235:genetics
D019038:Platelet Glycoprotein GPIb-IX Complex