Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/ IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura - Kunishima, S; Imai, T; Hamaguchi, M; Saito, H (Eur J Haematol, 2006)