Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome.
Xu
Li-min
LM
Sun
Guang-bin
GB
Wang
Peng
P
Sun
Na
N
Hu
Qiu-ping
QP
Cao
Fan-fan
FF
Peng
Bin
B
Zhang
Deng-hai
DH
D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*
D019038:Platelet Glycoprotein GPIb-IX Complex