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Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
J Eikenboom
1 ,
L Hilbert ,
A S Ribba ,
A Hommais ,
D Habart ,
S Messenger ,
A Al-Buhairan ,
A Guilliatt ,
W Lester ,
C Mazurier ,
D Meyer ,
E Fressinaud ,
U Budde ,
K Will ,
R Schneppenheim ,
T Obser ,
O Marggraf ,
E Eckert ,
G Castaman ,
F Rodeghiero ,
A B Federici ,
J Batlle ,
J Goudemand ,
J Ingerslev ,
S Lethagen ,
F Hill ,
I Peake ,
A Goodeve
Aug 2009
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Abstract
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.