Publication | Open Access

Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes

Thirty-five MutationsFabry DiseaseMendelian DisorderGenetic DisorderGeneticsVariant PhenotypesPathologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationMedicineLysosomal Storage DiseaseClinical Genetics