Article
Unveiling the influence of factor VIII physicochemical properties on hemophilia A phenotype through an in silico methodology.
Computer methods and programs in biomedicine - 1 Jun 2022
Meireles Mariana R, Stelmach Lara H, Bandinelli Eliane, Vieira Gustavo F
Abstract excerpt
BACKGROUND AND OBJECTIVES: Hemophilia A (HA) is an X-linked blood disorder. It is caused by pathogenic F8 gene variants, among which missense mutations are the most prevalent. The resulting amino acid substitutions may have different impacts on physicochemical properties and, consequently, on protein functionality. Regular prediction tools do not include structural elements and their physiological significance,...
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