Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.

@article{Quarrell2007ReducedPA,
  title={Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.},
  author={Oliver W.J. Quarrell and Alan S Rigby and Loretta Barron and Yanick J Crow and Ann E Dalton and Nick Dennis and Allan E. Fryer and Frances Heydon and Esther Kinning and Alison Lashwood and Monique Losekoot and L Margerison and Sue McDonnell and Patrick John Morrison and Alia Norman and Michael Clayton Peterson and Frances Lucy Raymond and Sharon A Simpson and Edward Thompson and Jay Warner},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 3},
  pages={e68}
}
OBJECTIVE To obtain penetrance data for Huntington's disease when DNA results are in the range of 36-39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. METHOD Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres. Kaplan-Meier analysis was used to construct an age of onset curve and penetrance figures… CONTINUE READING

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