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Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

Fragile X syndrome, which is caused by expanded CGG repeats of the FMR1 gene, is associated with a broad spectrum of clinical involvement and is the most common inherited form of intellectual disability. Early diagnosis and intervention are likely to lead to improved outcome for children with fragil...

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Detaylı Bibliyografya
Asıl Yazarlar: Fernandez-Carvajal, Isabel, Walichiewicz, Paulina, Xiaosen, Xie, Pan, Ruiqin, Hagerman, Paul J., Tassone, Flora
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Investigative Pathology 2009
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710709/
https://ncbi.nlm.nih.gov/pubmed/19460941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080173
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