Article
CGG repeat in the FMR1 gene: size matters.
Clinical genetics - 1 Sept 2011
Willemsen R, Levenga J, Oostra B A
Abstract excerpt
The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome (FXS), a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene....
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