TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia - Kunishima, Shinji; Nishimura, Satoshi; Suzuki, Hidenori; Imaizumi, Masue; Saito, Hidehiko (European journal of haematology, 2014)
Keywords: Adult; Amino Acid Sequence; Animals; Blood Platelets - metabolism; Blood Platelets - pathology; Blood Platelets - ultrastructure; Child; CHO Cells; Cricetulus; DNA Mutational Analysis; Female; Humans; macrothrombocytopenia; Male; Megakaryocytes - metabolism; Mice; microtubules; Microtubules - metabolism; Microtubules - ultrastructure; Models, Molecular; Molecular Sequence Data; Mutation; proplatelet formation; Protein Conformation; Sequence Alignment; Thrombocytopenia - diagnosis; Thrombocytopenia - genetics; Thrombocytopenia - metabolism; TUBB1; Tubulin - chemistry; Tubulin - genetics; Twins, Dizygotic; β1-tubulin; β1-tubulin; proplatelet formation; microtubules; macrothrombocytopenia; TUBB1