Fragile X spectrum disorders.

@article{Lozano2014FragileXS,
  title={Fragile X spectrum disorders.},
  author={Reymundo Lozano and Carolina Alba Rosero and Randi J. Hagerman},
  journal={Intractable & rare diseases research},
  year={2014},
  volume={3 4},
  pages={134-46}
}
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles of dynamic mutations include the full mutation (> 200 CGG repeats), premutation (55-200 CGG repeats) and the gray zone mutation (45-54 CGG repeats). Premutation carriers are common in the general population with approximately 1 in 130-250… CONTINUE READING

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