Article
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Scandinavian journal of clinical and laboratory investigation - 1 Dec 2017
Hasholt Lis, Ballegaard Martin, Bundgaard Henning, Christiansen Michael, Law Ian, Lund Allan M, Norremolle Anne, Krogh Rasmussen Ase, Ravn Kirstine, Tumer Zeynep, Wibrand Flemming, Feldt-Rasmussen Ulla
Abstract excerpt
Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our aim was to elucidate whether the presence of the D313Y variant influenced the α-Gal A activity or resulted in Fabry...
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