Article
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Thrombosis and haemostasis - 1 Aug 2013
Hampshire Daniel J, Abuzenadah Adel M, Cartwright Ashley, Al-Shammari Nawal S, Coyle Rachael E, Eckert Michaela, Al-Buhairan Ahlam M, Messenger Sarah L, Budde Ulrich, Gürsel Türkiz, Ingerslev Jørgen, Peake Ian R, Goodeve Anne C
Abstract excerpt
Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (IC) from Turkey diagnosed with all three VWD types, the majority (73%) with parents who were knowingly related. IC were screened for mutations using multiplex...
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