Article
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
Science (New York, N.Y.) - 30 Oct 1992
Goldfarb L G, Petersen R B, Tabaton M, Brown P, LeBlanc A C, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury W W
Abstract excerpt
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. The possibility that a second genetic component modified the phenotypic ex...
Topics
- Adult
- Asparagine
- Chromosomes, Human, Pair 20
- Codon
- Creutzfeldt-Jakob Syndrome
- DNA
- Genotype
- Humans
- Middle Aged
- Mutation
- Phenotype
- Polymorphism, Genetic
- Prion Diseases
- Prions
- Valine