Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s disease

@article{Nance1999AnalysisOA,
  title={Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s disease},
  author={M. Nance and V. Mathias-Hagen and G. Breningstall and M. Wick and R. Mcglennen},
  journal={Neurology},
  year={1999},
  volume={52},
  pages={392 - 392}
}
Article abstract A patient with juvenile Huntington’s disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats—the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of… Expand
Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat
XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease
Autopsy‐proven Huntington's disease with 29 trinucleotide repeats
History of genetic disease: The molecular genetics of Huntington disease — a history
  • G. Bates
  • Biology, Medicine
  • Nature Reviews Genetics
  • 2005
Autopsy‐proven Huntington's disease with 29 trinucleotide repeats
  • N. Reynolds
  • Medicine
  • Movement disorders : official journal of the Movement Disorder Society
  • 2008
Re: Autopsy‐proven Huntington's disease with 29 trinucleotide repeats
Clinical utility gene card for: Huntington’s disease
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 10 REFERENCES