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...