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
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
Haematologica
Wang, Jiong-Wei JW; Groeneveld, Dafna J DJ; Cosemans, Guy G; Dirven, Richard J RJ; Valentijn, Karine M KM; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.
The Journal Of Biological Chemistry
Wang, Jiong-Wei JW; Valentijn, Karine M KM; de Boer, Hetty C HC; Dirven, Richard J RJ; van Zonneveld, Anton Jan AJ; Koster, Abraham J AJ; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.
Haematologica
Hampshire, Daniel J DJ; Burghel, George J GJ; Goudemand, Jenny J; Bouvet, Laura C S LC; Eikenboom, Jeroen C J JC; Schneppenheim, Reinhard R; Budde, Ulrich U; Peake, Ian R IR; Goodeve, Anne C AC; ,
Publication Date: 2010-12
Variant appearance in text: VWF: 3179G>A; Cys1060Tyr