Article
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Pediatric research - 1 Feb 2010
Park Noh Jin, Morgan Craig, Sharma Rajesh, Li Yuanyin, Lobo Raynah M, Redman Joy B, Salazar Denise, Sun Weimin, Neidich Julie A, Strom Charles M
Abstract excerpt
The purpose of this study was to determine whether combining different testing modalities namely beta-hexosaminidase A (HEXA) enzyme analysis, HEXA DNA common mutation assay, and HEXA gene sequencing could improve the sensitivity for carrier detection in non-Ashkenazi (AJ) individuals. We performed a HEXA gene sequencing assay, a HEXA DNA common mutation assay, and a HEXA enzyme assay on 34 self-reported...
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