Article
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Human mutation - 1 Jul 2010
Beck Jon A, Poulter Mark, Campbell Tracy A, Adamson Gary, Uphill James B, Guerreiro Rita, Jackson Graham S, Stevens James C, Manji Hadi, Collinge John, Mead Simon
Abstract excerpt
Mutation of the human prion protein gene (PRNP) open reading frame (ORF) accounts for almost all reported familial concurrence of prion disease. The more common mutations globally: octapeptide repeat insertions, P102L, D178N, E200K, and V210I have occurred in large multigenerational pedigrees and...
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