Article
Molecular genetics of human prion diseases.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 29 Mar 1994
Collinge J, Palmer M S
Abstract excerpt
Human prion diseases occur in inherited, sporadic and acquired forms. The inherited forms are associated with coding mutations in the prion protein gene and the identification of one of these pathogenic mutations allows definitive diagnosis and has resulted in a widening of the previously recognized phenotypic spectrum of these diseases. Study of acquired prion disease provides evidence for genetic susceptibility...
Topics
- Alleles
- Animals
- Animals, Genetically Modified
- Creutzfeldt-Jakob Syndrome
- Disease Models, Animal
- Heterozygote
- Homozygote
- Humans
- Iatrogenic Disease
- Molecular Biology
- Mutation
