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Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reporte...

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Autori principali: Scott, Stuart A., Edelmann, Lisa, Liu, Liu, Luo, Minjie, Desnick, Robert J., Kornreich, Ruth
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2970726/
https://ncbi.nlm.nih.gov/pubmed/20672374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21327
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