Article

Application of a new in silico strategy to evidencing the role of missense mutations properties in determining Hemophilia A

2020-11-07

Abstract excerpt

Hemophilia A (HA) consists of a genetic X-linked blood disorder. It is caused by a diversity of F8 gene mutations, with missense type being the most prevalent. Amino acid substitutions may impact physicochemical properties of the protein, providing an abundant scenario for investigation. This work evaluates 71 substitutions contributing to distinct patients’ phenotypes (mild, moderate, and severe), in terms of phy...

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Literature Corpus work: bc9ce4c0-3de4-5319-9a77-685e7ef9a8d2
DOI: 10.22541/au.160478471.16384652/v1

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