Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

@article{Snell1993RelationshipBT,
  title={Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease},
  author={Russell G Snell and J. C. Macmillan and Jeremy P. Cheadle and I. M. Fenton and Lazarus P. Lazarou and Peter Davies and Marcy E. MacDonald and James F. Gusella and P S Harper and Duncan J. Shaw},
  journal={Nature Genetics},
  year={1993},
  volume={4},
  pages={393-397}
}
The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30–70 repeats in affected individuals and 9–34 in normals. We find significant negative correlations between the number of repeats on the HD chromosome and age at onset, regardless of sex of the transmitting parent, and between the number of repeats on the normal paternal allele and age at onset in individuals with maternally… CONTINUE READING

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