Article
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2009
Eikenboom J, Hilbert L, Ribba A S, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici A B, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Hill F, Peake I, Goodeve A
Abstract excerpt
BACKGROUND: Candidate von Willebrand factor (VWF) mutations were identified in 70% of index cases in the European study 'Molecular and Clinical Markers for the Diagnosis and Management of type 1 von Willebrand Disease'. The majority of these were missense mutations. OBJECTIVES: To assess whether 14 representative missense mutations are the cause of the phenotype observed in the patients and to examine their mode...
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