Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR.

@article{Crawford2000FactorsII,
  title={Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR.},
  author={Dana C. Crawford and Bill Wilson and Stephanie L. Sherman},
  journal={Human molecular genetics},
  year={2000},
  volume={9 19},
  pages={2909-18}
}
The fragile X syndrome is one of more than a dozen genetic diseases attributed to the amplification of a trinucleotide repeat. Despite the number of these disease loci, relatively little is known about the mechanism(s) that cause a stable allele to become unstable. Population and family studies of the fragile X CGG repeat have identified a number of factors that may play a role in repeat instability including the number of AGG interruptions, purity of the 3' and 5' end of the repeat and cis… CONTINUE READING
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