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Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis...

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Detalles Bibliográficos
Autores principales:	Hoffman, Jodi D, Greger, Valerie, Strovel, Erin T, Blitzer, Miriam G, Umbarger, Mark A, Kennedy, Caleb, Bishop, Brian, Saunders, Patrick, Porreca, Gregory J, Schienda, Jaclyn, Davie, Jocelyn, Hallam, Stephanie, Towne, Charles
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2013
Materias:	Methods
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865593/ https://www.ncbi.nlm.nih.gov/pubmed/24498621 http://dx.doi.org/10.1002/mgg3.37

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