Molecular and Structural Characterization of Five Novel GLA Gene Variants in Fabry Disease
Overall, these findings support an effect of the five variants on α-galactosidase A structure and function and highlight the value of integrating clinical, genetic, biochemical, and computational data for variant interpretation.
Monia Anania, V. Pagliardini, Marco Spada et al.
· International Journal of Mol... · 0 citations