A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

@article{MacDonald1993ANG,
  title={A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes},
  author={M. MacDonald and C. Ambrose and M. Duyao and R. Myers and Carol S. Lin and L. Srinidhi and G. Barnes and Sherryl A. M. Taylor and M. James and Nicolet Groot and Heather MacFarlane and B. Jenkins and Mary Anne Anderson and N. Wexler and J. Gusella and G. Bates and S. Baxendale and H. Hummerich and S. Kirby and M. North and S. Youngman and R. Mott and G. Zehetner and Z. Sedlacek and A. Poustka and A. Frischauf and H. Lehrach and A. Buckler and D. Church and L. Doucette‐Stamm and M. O’Donovan and Laura Riba-Ram{\'i}rez and Manish S. Shah and V. Stanton and S. Strobel and K. M. Draths and Jennifer L. Wales and P. Dervan and D. Housman and M. Altherr and R. Shiang and L. Thompson and T. Fielder and J. Wasmuth and D. Tagle and J. Valdes and Lon Elmer and Marc Allard and L. Castilla and M. Swaroop and K. Blanchard and F. Collins and R. Snell and T. Holloway and Kathleen Gillespie and N. Datson and D. Shaw and P. Harper},
  journal={Cell},
  year={1993},
  volume={72},
  pages={971-983}
}
The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. [...] Key Result A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment…Expand
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