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Primer System for Single Cell Detection of Double Mutation for Tay-Sachs Disease

Purpose: Nearly 100% of infantile Tay-Sachs disease isproduced by two mutations occurring in the alpha chain ofthe lysosomal enzyme beta-N-acetylhexosaminidase (HEXA)in the Ashkenazi Jewish population. Although others havedescribed primer systems used to amplify both sitessimultaneously, few discuss...

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Autors principals: Liu, Ming Cheng, Drury, Kenneth C., Kipersztok, Simon, Zheng, Wenrong, Williams, R. Stan
Format: Artigo
Idioma:Inglês
Publicat: Kluwer Academic Publishers-Plenum Publishers 2000
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3455160/
https://ncbi.nlm.nih.gov/pubmed/10806593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1023/A:1009474202641
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