Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.
Toyohama
Tamiko
T
Second Department of Internal Medicine, Faculty of Medicine, University of the Ryukus, Okinawa, Japan.
Nagasaki
Akitoshi
A
Gushi
Kazuo
K
Tamaki
Kazumitsu
K
Masuda
Masato
M
Takasu
Nobuyuki
N
D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D002648:Child; D003062:Codon; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D018703:Founder Effect; D006801:Humans; D007564:Japan; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*
D003062:Codon; D018389:Codon, Nonsense; D019038:Platelet Glycoprotein GPIb-IX Complex