Article
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.
RNA (New York, N.Y.) - 1 May 2007
García-Alegría Eva, Ibáñez Berta, Mínguez Mónica, Poch Marisa, Valiente Alberto, Sanz-Parra Arantza, Martinez-Bouzas Cristina, Beristain Elena, Tejada Maria-Isabel
Abstract excerpt
Fragile X syndrome is caused by the absence or reduction of the fragile X mental retardation protein (FMRP) because FMR1 gene expression is reduced. Alleles with repeat sizes of 55-200 are classified as premutations, and it has been demonstrated that FMR1 expression is elevated in the premutation range. However, the majority of the studies reported were performed in males. We studied FMR1 expression in 100 female...
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