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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 system, we found a new mutation of the PrP gene in a patient with pathologically confirmed Creutzfeldt-Jakob disease and a...

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Identifiers

PMID: 8909447
DOI: 10.1212/wnl.47.5.1305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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