A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease.

@article{Goldfarb1993AN,
  title={A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease.},
  author={Lev G. Goldfarb and Paul Brown and Benjamin W. Little and Larisa Cerven{\'a}kov{\'a} and K W Kenney and Clarence J. Gibbs and D. Carleton Gajdusek},
  journal={Neurology},
  year={1993},
  volume={43 11},
  pages={2392-4}
}
We report a family in which the proband died of clinically typical, neuropathologically verified Creutzfeldt-Jakob disease; her still-living mother suffers from a progressive dementia of many years' duration, and her maternal grandfather died after a similar illness. The proband, her mother, and two of three young first-degree relatives all have an identical insert mutation in the PRNP gene consisting of a twice-repeated 24-nucleotide sequence in the region between codons 51 and 91. 

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