Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

@article{Tassone2000ElevatedLO,
  title={Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.},
  author={Flora Tassone and Randi Hagerman and Annette Kimball Taylor and Louise W. Gane and Tony E. Godfrey and Paul J. Hagerman},
  journal={American journal of human genetics},
  year={2000},
  volume={66 1},
  pages={6-15}
}
Fragile-X syndrome is a trinucleotide-repeat-expansion disorder in which the clinical phenotype is believed to result from transcriptional silencing of the fragile-X mental retardation 1 (FMR1) gene as the number of CGG repeats exceeds approximately 200. For premutation alleles ( approximately 55-200 repeats), no abnormalities in FMR1-gene expression have been described, despite growing evidence of clinical involvement in premutation carriers. To address this (apparent) paradox, we have… CONTINUE READING
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