The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Pagliari, Maria Teresa MT; Baronciani, Luciano L; Cordiglieri, Chiara C; Colpani, Paola P; Cozzi, Giovanna G; Siboni, Simona M SM; Peyvandi, Flora F
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Thrombosis And Haemostasis
Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC