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...
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