TY  - GEN
AU  - Toyohama,Tamiko
AU  - Nagasaki,Akitoshi
AU  - Gushi,Kazuo
AU  - Tamaki,Kazumitsu
AU  - Masuda,Masato
AU  - Takasu,Nobuyuki
TI  - Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome
SN  - 0953-7104
PY  - 2004///0227
KW  - Adult
KW  - Bernard-Soulier Syndrome
KW  - genetics
KW  - Child
KW  - Codon
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Founder Effect
KW  - Humans
KW  - Japan
KW  - Platelet Glycoprotein GPIb-IX Complex
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1080/0953710031000092848
ER  -