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Article

Fragile-X mental retardation: molecular diagnosis in Argentine patients.

Journal of biochemistry and molecular biology - 30 Nov 2006

Florencia Giliberto, Irene Szijan, Veronica Ferreiro

Abstract excerpt

Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A...

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Identifiers

PMID: 17129414
DOI: 10.5483/bmbrep.2006.39.6.766

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