Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a “full mutation” allele from which there is no gene expression and a “premutation” allele which has normal gene expression. We compared the...

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