Publications:

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Plos One

Manderstedt, Eric E; Nilsson, Rosanna R; Lind-Halldén, Christina C; Ljung, Rolf R; Astermark, Jan J; Halldén, Christer C

Publication Date: 2019

Variant appearance in text: VWF: 7430G>C; Cys2477Ser; rs61751289

PubMed Link: 31026269

Variant Present in the following documents:

• Main text
• pone.0216179.pdf
• pone.0216179.s001.xlsx, sheet 1

View BVdb publication page

VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.

Blood

Eikenboom, Jeroen J; Federici, Augusto B AB; Dirven, Richard J RJ; Castaman, Giancarlo G; Rodeghiero, Francesco F; Budde, Ulrich U; Schneppenheim, Reinhard R; Batlle, Javier J; Canciani, Maria Teresa MT; Goudemand, Jenny J; Peake, Ian I; Goodeve, Anne A; ,

Publication Date: 2013-03-21

Variant appearance in text: VWF: C2477S

PubMed Link: 23349392

Variant Present in the following documents:

• Main text

View BVdb publication page

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: C2477S

PubMed Link: 18344424

Variant Present in the following documents:

• Main text

View BVdb publication page