Article
Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue.
Acta neuropathologica - 1 Jan 1995
Kretzschmar H A, Neumann M, Stavrou D
Abstract excerpt
Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is a...
Topics
- Aged
- Base Sequence
- Brain
- Codon
- Creutzfeldt-Jakob Syndrome
- DNA Probes
- Family
- Germany
- Humans
- Molecular Sequence Data
- Mutation
- Prions
- Sequence Analysis, DNA
