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Listar por autor "Casaña Gargallo, María Pilar"

Mostrando ítems 1-5 de 5

Association of the 3467C>T mutation (T1156M) in the von Willebrands factor gene with dominant type 1 von Willebrands disease

Casaña-Gargallo, María Pilar; Francisco Martínez; Saturnino Haya; Espinós-Armero, Carmen Ángeles; José Antonio Aznar (Springer-Verlag, 2001-07)

[EN] Type I is the most frequent form of von Willebrand's disease, which is characterized by a quantitative partial deficiency of von Willebrand's factor. At present, only two mutations located in the D3 domain (C1149R, ...
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 ...
Search for Mutations in a Segment of the Exon 28 of the Human Von Willebrand Factor Gene. New Mutations, R1315C and R1341W, Associated with Type 2M and 2B Variants

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 ...
Severe and moderate hemophilia A: identification of 38 new genetic alterations

Casaña, Pilar; Cabrera, Noelia; Cid, Ana Rosa; Haya, Saturnino; Beneyto, Magdalena; Espinós-Armero, Carmen Ángeles; Cortina, Vicente; Dasí, María Angeles; Aznar, José Antonio (Ferrata Storti Foundation, 2008-07)

[EN] Hemophilia A is an X-linked recessive disorder caused by a lack or decrease of factor VIII activity. Its socio-economic impact is high given its high bleeding expression and treatment cost. Our aim was to establish ...
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 ...