Mutation analysis of Gaucher disease pat
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Cormand, Bru; Harboe, Theresa L.; Gort, Laura; Campoy, Cristina; Blanco, Mariana
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Article
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1998
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John Wiley and Sons
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English
β 75 KB
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Gaucher disease (GD) is caused by a deficiency of β€-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme. More than 100 mutations have been identified to date and their frequencies have been established in several populations, including Ashkenazi Jews, among whom the