Resumo

WOODS, Adriana Inés; PAIVA, Juvenal; LAZZARI, María Ángela  e  SANCHEZ-LUCEROS, Analía. Variantes genéticas frecuentes del factor von Willebrand: su influencia en el laboratorio y la clínica. Acta bioquím. clín. latinoam. [online]. 2019, vol.53, n.2, pp.183-192. ISSN 0325-2957.

The von Willebrand factor (VWF) is a highly polymorphic glycoprotein. Several frequent asymptomatic genetic variants, their influences on phenotypic studies, on the plasma levels of VWF, and therefore in different clinical entities are described here. Variations in allele frequency in different ethnic groups analyzed are also detailed. The aim of this study was to highlight the need to know the frequency of polymorphisms in the normal population to avoid possible erroneous conclusions at the time of finding genetic variants not previously reported in the scientific literature.

Palavras-chave : von Willebrand factor; Phenotypic diagnosis; Genotypic diagnosis; Genetic variants.

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