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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Veröffentlicht in:The Journal of molecular diagnostics : JMD 2009-07, Vol.11 (4), p.324-329
Hauptverfasser: Fernandez-Carvajal, Isabel, Walichiewicz, Paulina, Xiaosen, Xie, Pan, Ruiqin, Hagerman, Paul J, Tassone, Flora
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Sprache:eng
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