Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

doi:10.1212/wnl.47.5.1305

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Article

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

Neurology - 1 Nov 1996

Mastrianni J A, Iannicola C, Myers R M, DeArmond S, Prusiner S B

Abstract excerpt

Four point mutations and one insertion within the prion protein (PrP) gene have been tightly linked to the development of inherited prion disease. We developed a denaturing gradient gel electrophoresis system that allowed us to screen the entire open reading frame of the PrP gene. Using this syst...

Topics

Base Sequence
Creutzfeldt-Jakob Syndrome
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Prions

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