Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation.
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Tetsuji
T
Sato
Shinji
S
Kunishima
Rie
R
Shirayama
Shun
S
Ichikawa
Michio
M
Sakai
Koichi
K
Kusuhara
D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D001792:Blood Platelets / Q000276:immunology; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*
D019038:Platelet Glycoprotein GPIb-IX Complex