Molecular and Structural Characterization of Five Novel GLA Gene Variants in Fabry Disease
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, encoding α-galactosidase A. Enzyme deficiency leads to progressive globotriaosylceramide (Gb3) accumulation and multisystemic involvement. Here, we characterize five previously undescribed GLA variants (p.D109N, p.N21...
Monia Anania, V. Pagliardini, Marco Spada et al.
· International Journal of Mol... · 0 citations