Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population

Background and Aims: Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individu...

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Vydáno v:Genet Test Mol Biomarkers
Hlavní autoři: Mehta, Nikita, Lazarin, Gabriel A., Spiegel, Erica, Berentsen, Kathleen, Brennan, Kelly, Giordano, Jessica, Haque, Imran S., Wapner, Ronald
Médium: Artigo
Jazyk:Inglês
Vydáno: Mary Ann Liebert, Inc. 2016
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5314723/
https://ncbi.nlm.nih.gov/pubmed/27362553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2015.0302
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