CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.

@article{Semaka2013CAGSR,
  title={CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.},
  author={Alicia J Semaka and Chris Kay and Crystal N. Doty and Jennifer A. Collins and Emilia K. Bijlsma and Fiona Richards and Yigal Paul Goldberg and Michael R. Hayden},
  journal={Journal of medical genetics},
  year={2013},
  volume={50 10},
  pages={696-703}
}
INTRODUCTION New mutations for Huntington disease (HD) occur due to CAG repeat instability of intermediate alleles (IA). IAs have between 27 and 35 CAG repeats, a range just below the disease threshold of 36 repeats. While they usually do not confer the HD phenotype, IAs are prone to paternal germline CAG repeat instability. Consequently, they may expand… CONTINUE READING