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Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 Genet. Mol. Biol.
Simon,Daniel; Bandinelli,Eliane; Roisenberg,Israel.
The -1185A/G polymorphism in the 5'-regulatory region of the von Willebrand factor (VWF) gene was associated with VWF plasma levels in a normal population. This study was undertaken to evaluate whether there is a relationship between this polymorphism and type 1 von Willebrand disease (VWD), a disorder characterized by a quantitative deficiency of VWF. The association between this polymorphism and plasma VWF levels in normal Brazilian individuals was also analyzed. Control subjects (n = 460) and type 1 VWD patients (n = 41) were studied. Polymerase chain reaction (PCR) amplification of the 864-bp VWF promoter region followed by AccII restriction-digestion was used to identify the -1185A/G genotypes. The -1185G allele frequency was 57% in normal individuals...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Von Willebrand factor; Promoter polymorphisms; Genetics; Von Willebrand disease.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400001
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