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Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990
See this aricle in Pubmed

Article Abstract
The increased specificity and predictive value of the DNA-based test make it a useful adjunct to the diagnostic tests currently used to screen for carriers of Tay-Sachs disease.Although some false positive results may be desirable on an enzyme-based test that is used in screening,the DNA test allows precise definition of the carrier state for the known mutations.
 
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gangliosidosis GM2
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