Artículo
R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype
Casais, Patricia; Carballo, Gonzalo A.; Woods, Adriana Inés
; Kempfer, Ana Catalina
; Farias, Cristina Elena
; Grosso, Silvia; Lazzari, María Ángela
Fecha de publicación:
12/2006
Editorial:
Schattauer Gmbh-Verlag Medizin Naturwissenschaften
Revista:
Thrombosis and Haemostasis
ISSN:
0340-6245
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Von Willebrand disease (VWD) type 2 comprises the qualitative defects of VWF molecule (1). Among them, VWD 2N is the result of mutations in the D’ or D3 domains in the N-terminal region that cause VWF with a defective binding capacity to FVIII, resulting in the premature degradation of FVIII (2). Heterozygous individuals are generally asymptomatic, but homozygotes and compound heterozygotes have phenotypes mimicking hemophilia A (3). The presence of confounding genetic factors, such as those conferred by VWD type 1, would explain the variability in phenotype.
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Articulos de INST.DE MEDICINA EXPERIMENTAL
Articulos de INST.DE MEDICINA EXPERIMENTAL
Citación
Casais, Patricia; Carballo, Gonzalo A.; Woods, Adriana Inés; Kempfer, Ana Catalina; Farias, Cristina Elena; et al.; R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype; Schattauer Gmbh-Verlag Medizin Naturwissenschaften; Thrombosis and Haemostasis; 96; 12-2006; 228-230
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