Novel GLA T194A variant causes Fabry disease

Pestana, MN; da Silva, FG; Duraes, J; Silva, G

Pestana, MN (corresponding author), Hosp Doctor Nelio Mendonca, Nephrol, Funchal, Portugal.

BMJ CASE REPORTS, 2021; 14 (3):

Abstract

Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of chan......

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