Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.

@article{Mead2006InheritedPD,
  title={Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.},
  author={Simon H. Mead and Mark A. Poulter and Johannes Beck and Thomas E F Webb and T. Austin Campbell and Jacqueline M. Linehan and Melanie Desbruslais and Susan Joiner and Jonathan D F Wadsworth and Andrew King and Peter Lantos and J. A. Collinge},
  journal={Brain : a journal of neurology},
  year={2006},
  volume={129 Pt 9},
  pages={
          2297-317
        }
}
By far the largest known kindred with an inherited prion disease caused by a prion protein (PrP) octapeptide repeat insertion mutation originates from southeast England. This extended family shows very marked phenotypic heterogeneity and provides a unique opportunity to characterize this diversity and examine possible modifying factors amongst a large number of individuals in whom prion disease has been initiated by the same defined genetic mutation. As the inherited prion diseases comprise a… CONTINUE READING
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