Article
D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?
Nefrologia - 1 Jan 2000
Vicente Rita, Santos Iolanda, Coimbra Miguel, Santos Joana, Santos Ricardo, Amoedo Manuel, Pires Carlos
Abstract excerpt
Fabry disease is a multisystem lysosomal storage disorder caused by mutations in the GLA gene that result in a deficient or absent activity of alpha-galactosidase A. There is a wide spectrum of GLA gene variants, some of which are described as non-pathogenic. The clinical importance of the D313Y variant is still under debate, although in recent years it has been considered as a variant of unknown significance or...
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