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Improving Accuracy of Tay Sachs Carrier Screening of the Non Jewish Population: Analysis of 34 Carriers and 6 late-onset Patients with HEXA Enzyme and DNA Sequence Analysis
Pediatric Research, 10/29/09

Park NJ et al. – Gene sequencing, is useful in identifying rare mutations in TSD patients and their families, in evaluating spouses of known carriers for TSD who have indeterminate enzyme analysis and negative for common mutation analysis, and in resolving ambiguous enzyme testing results.

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