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Article

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

American journal of medical genetics - 15 Feb 2001

Bach G, Tomczak J, Risch N, Ekstein J

Abstract excerpt

A unique screening program for the identification of Tay-Sachs Disease (TSD) heterozygotes has been performed in the tradi- tional Orthodox Ashkenazi Jewish (AJ) community since 1983. In recent years the program has utilized the biochemical assay for the determination of hexosaminidase A levels by the heat inactivation technique as well as by direct DNA analysis. The three mutations which were analyzed were those...

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Identifiers

PMID: 11170098
DOI: 10.1002/1096-8628(20010215)99:1<70::aid-ajmg1120>3.0.co;2-0

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