A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.

doi:10.1212/wnl.46.3.761

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Article

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.

Neurology - 1 Mar 1996

Campbell T A, Palmer M S, Will R G, Gibb W R, Luthert P J, Collinge J

Abstract excerpt

There are coding mutations in the prion protein gene in familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease, and other phenotypes that make up the inherited prion diseases. Insertional mutations consisting of two, five, six, seven, eight, and nine additional octapepti...

Topics

Amino Acid Sequence
Base Composition
Base Sequence
Brain
DNA
DNA Transposable Elements
Humans
Male
Middle Aged
Molecular Probes
Molecular Sequence Data
Mutation
Prion Diseases
Prions

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