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Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population

In the Ashkenazi Jewish population, serious and lethal genetic conditions occur with relatively high frequency. A single test that encompasses the majority of population-specific mutations is not currently available. For comprehensive carrier screening and molecular diagnostic purposes, we developed...

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Detaylı Bibliyografya
Asıl Yazarlar: Schrijver, Iris, Külm, Maigi, Gardner, Phyllis I., Pergament, Eugene P., Fiddler, Morris B.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Investigative Pathology 2007
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867437/
https://ncbi.nlm.nih.gov/pubmed/17384215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2007.060100
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