Article
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.
Human genetics - 1 Oct 1994
Salvatore M, Genuardi M, Petraroli R, Masullo C, D'Alessandro M, Pocchiari M
Abstract excerpt
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of the amyloid protein PrP in the CNS. Two coding polymorphisms of the PrP gene (PRNP) are a methionine (Met) to valine (Val) change at codon 129, and a deletion in the octapeptide codi...
Topics
- Adult
- Age of Onset
- Aged
- Codon
- Creutzfeldt-Jakob Syndrome
- Genotype
- Humans
- Italy
- Middle Aged
- Polymorphism, Genetic
- Prions
- Sequence Deletion