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; Yoshida, H; Osumi, K; Kobayashi, S; Ohno, R; Naoe, T (Blood, 1994)