Publications:

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood Advances

Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-09-27

Variant appearance in text: VWF: V1499E

PubMed Link: 35446929

Variant Present in the following documents:

• advancesADV2021006757.pdf

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VWF: 4496T>A; Val1499Glu

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One

Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA

Publication Date: 2017

Variant appearance in text: VWF: V1499E

PubMed Link: 29186156

Variant Present in the following documents:

• Main text
• pone.0188405.pdf

View BVdb publication page