title: Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.
authors.affiliation: Second Department of Internal Medicine, Faculty of Medicine, University of the Ryukus, Okinawa, Japan.
authors.forename: Tamiko
authors.initials: T
authors.lastname: Toyohama
authors.forename: Akitoshi
authors.initials: A
authors.lastname: Nagasaki
authors.forename: Kazuo
authors.initials: K
authors.lastname: Gushi
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Tamaki
authors.forename: Masato
authors.initials: M
authors.lastname: Masuda
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Takasu
mesh_terms: 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*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D019038:Platelet Glycoprotein GPIb-IX Complex