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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 ...

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