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  • Gaucher disease is the most common of these disorders, with a carrier frequency of 6% in Ashkenazi Jews8 compared with an estimated 0.7% to 0.8% in non-Jewish populations.9,10 Testing for 4 mutations in the glucocerebrosidase gene (GBA) (N370S, 84insG [commonly denoted 84GG], L444P, and IVS2DS+1G-A [commonly denoted IVS2 + 1]) detects at least 96% of carriers in Ashkenazi Jews11 and perhaps 75% of
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