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Listar por palabra clave "Von Willebrand disease"

Mostrando ítems 1-2 de 2

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene

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 ...
Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene

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 ...

Mostrando ítems 1-2 de 2