Citation: Lc. Blanch et al., A SENSITIVE MUTATION SCREENING STRATEGY FOR FABRY DISEASE - DETECTIONOF 9 MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE, Human mutation, 8(1), 1996, pp. 38-43
Citation: C. Meaney et al., A NONSENSE MUTATION (R220X) IN THE ALPHA-GALACTOSIDASE A GENE DETECTED IN A FEMALE CARRIER OF FABRY-DISEASE, Human molecular genetics, 3(6), 1994, pp. 1019-1020