Article
Carrier screening for Gaucher disease in couples of mixed ethnicity.
Genetic testing - 1 Jan 2001
Wallerstein R, Starkman A, Jansen V
Abstract excerpt
With the advent of mutational analysis for Gaucher disease, carrier screening has been incorporated into many Jewish genetic disease screening programs. Frequencies and mutations for Gaucher disease in non-Jewish populations are less well established and the detection rate of carriers are lower. Testing is problematic for resolving residual risk in a couple of mixed ethnicity. We report the testing choices made...
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