Article
Mutations and polymorphisms in the prion protein gene.
Human mutation - 1 Jan 1993
Palmer M S, Collinge J
Abstract excerpt
Inherited forms of prion diseases are associated with mutations in the prion protein gene. A common polymorphism at codon 129 is also implicated in the predisposition of individuals to sporadic or iatrogenic forms of the disease. This update lists all the currently published mutations and polymorphisms together with their clinical phenotypes, and discusses the significance of the codon 129 genotype in inherited,...
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