Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family
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Fabry disease, a lysosomal storage disease, is an uncommon X-linked recessive genetic disorder stemming from abnormalities in the alpha-galactosidase gene (GLA) that codes human alpha-Galactosidase A (α-Gal A). To date, over 800 GLA mutations have been found ... ...
