Publications:

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Blood

Lavin, Michelle M; Aguila, Sonia S; Schneppenheim, Sonja S; Dalton, Niall N; Jones, Kenneth L KL; O'Sullivan, Jamie M JM; O'Connell, Niamh M NM; Ryan, Kevin K; White, Barry B; Byrne, Mary M; Rafferty, Marie M; Doyle, Mairead M MM; Nolan, Margaret M; Preston, Roger J S RJS; Budde, Ulrich U; James, Paula P; Di Paola, Jorge J; O'Donnell, James S JS

Publication Date: 2017-11-23

Variant appearance in text: VWF: 1548T>A

PubMed Link: 28916584

Variant Present in the following documents:

• Main text

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A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Haematologica

Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G

Publication Date: 2013-01

Variant appearance in text: rs1800379

PubMed Link: 22875612

Variant Present in the following documents:

• Main text

View BVdb publication page