Publications:

Von Willebrand Disease: From In Vivo to In Vitro Disease Models.

Hemasphere

de Boer, Suzan S; Eikenboom, Jeroen J

Publication Date: 2019-10

Variant appearance in text: VWF: M771I

PubMed Link: 31942548

Variant Present in the following documents:

• hs9-3-e297.pdf

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Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

Thrombosis Research

White-Adams, Tara C TC; Ng, Christopher J CJ; Jacobi, Paula M PM; Haberichter, Sandra L SL; Di Paola, Jorge A JA

Publication Date: 2016-09

Variant appearance in text: VWF: 2313G>T; M771I

PubMed Link: 27533707

Variant Present in the following documents:

• Main text

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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Blood Transfusion = Trasfusione Del Sangue

Berber, Ergul E; Ozbil, Mehmet M; Brown, Christine C; Baslar, Zafer Z; Caglayan, S Hande SH; Lillicrap, David D

Publication Date: 2017-10

Variant appearance in text: VWF: M771I

PubMed Link: 27483487

Variant Present in the following documents:

• Main text

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Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood

Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR

Publication Date: 2008-05-15

Variant appearance in text: VWF: M771I

PubMed Link: 18344424

Variant Present in the following documents:

• Main text

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