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Newborn Screening for Fragile X

Currently, fragile X syndrome (FXS), caused by a trinucleotide expansion (> 200 CGG) in the FMR1 gene, is not included in newborn screening panels in the United States, as it does not meet the standards for recommendation. Although in the past few years FXS has met many of the criteria for popula...

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Detaylı Bibliyografya
Yazar: Tassone, Flora
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4004956/
https://ncbi.nlm.nih.gov/pubmed/24395328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.4808
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