Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Blood Advances
Baronciani, Luciano L; Peake, Ian I; Schneppenheim, Reinhard R; Goodeve, Anne A; Ahmadinejad, Minoo M; Badiee, Zahra Z; Baghaipour, Mohammad-Reza MR; Benitez, Olga O; Bodó, Imre I; Budde, Ulrich U; Cairo, Andrea A; Castaman, Giancarlo G; Eshghi, Peyman P; Goudemand, Jenny J; Hassenpflug, Wolf W; Hoorfar, Hamid H; Karimi, Mehran M; Keikhaei, Bijan B; Lassila, Riitta R; Leebeek, Frank W G FWG; Lopez Fernandez, Maria Fernanda MF; Mannucci, Pier Mannuccio PM; Marino, Renato R; Nikšić, Nikolas N; Oyen, Florian F; Santoro, Cristina C; Tiede, Andreas A; Toogeh, Gholamreza G; Tosetto, Alberto A; Trossaert, Marc M; Zetterberg, Eva M K EMK; Eikenboom, Jeroen J; Federici, Augusto B AB; Peyvandi, Flora F
Publication Date: 2021-08-10
Variant appearance in text: VWF: 8216G>A; Cys2739Tyr; rs61751305
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