High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.

@article{Hornstra1993HighRM,
  title={High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.},
  author={Ian Kerst Hornstra and David L. G. Nelson and Stephen T Warren and Thomas P. Yang},
  journal={Human molecular genetics},
  year={1993},
  volume={2 10},
  pages={1659-65}
}
Fragile X syndrome is the most common form of inherited mental retardation in man. The disease is associated with expansion in the number of tandem CGG trinucleotide repeats in the 5' untranslated region of the human FMR1 gene. Transmitting males, individuals who are unaffected carriers of the disease, show a moderate increase in the number of repeat units, while fully penetrant males show a major expansion in repeat number. Major expansion of the repeat in affected males is correlated with… CONTINUE READING
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