Bernard-Soulier syndrome Kagoshima: Ser 444→ Stop mutation of Glycoprotein (GP) Ibα resulting in circulating truncated GPIbα and surface expression of GPIbβ and GPIX - Kunishima, S; Miura, H; Fukutani, H; Yosida, H; Osumi, K; Kobayashi, S; Ohno, R; Naoe, T (Blood, 1994)