Casaña, Pilar; Martínez, Francisco; Haya, Saturnino; Lorenzo, José Ignacio; Espinós-Armero, Carmen Ángeles; Aznar, José A.(Blackwell Publishing, 2000-11)
[EN] Type 3 von Willebrand disease, a recessive autosomally inherited bleeding disorder, refers to complete deficiency of von Willebrand factor (VWF). The novel Q1311X mutation was detected in the homozygous state in four ...
Casaña, Pilar; Martínez, Francisco; Espinós-Armero, Carmen Ángeles; Haya, Saturnino; Lorenzo, José Ignacio; Aznar, José A.(John Wiley & Sons, 1998-09)
[EN]
von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF), A large number of defects ...
Casaña-Gargallo, María Pilar; Martínez, Francisco; Haya, Saturnino; Espinós-Armero, Carmen Ángeles; Aznar, José A.(Blackwell Publishing, 2001-12)
[EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant ...