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High-Throughput Carrier Screening Using TaqMan Allelic Discrimination

Members of the Ashkenazi Jewish community are at an increased risk for inheritance of numerous genetic diseases such that carrier screening is medically recommended. This paper describes the development and evaluation of 30 TaqMan allelic discrimination qPCR assays for 29 mutations on 2 different hi...

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Auteurs principaux: Fedick, Anastasia, Su, Jing, Jalas, Chaim, Northrop, Lesley, Devkota, Batsal, Ekstein, Josef, Treff, Nathan R.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2013
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3608587/
https://ncbi.nlm.nih.gov/pubmed/23555759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059722
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