Prion disease with 144 base pair insertion in a Japanese family line.

doi:10.1007/BF00294463

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Article

Prion disease with 144 base pair insertion in a Japanese family line.

Acta neuropathologica - 1 Jan 1995

Oda T, Kitamoto T, Tateishi J, Mitsuhashi T, Iwabuchi K, Haga C, Oguni E, Kato Y, Tominaga I, Yanai K

Abstract excerpt

We describe an insert mutation in the prion protein (PrP) gene in a Japanese family line that encodes six octapeptide repeats. This is the second report to date of an inherited prion disease with a 144-base pair insertion, although the order of the repeat sequences differ from that reported for t...

Topics

Adult
Base Sequence
Cerebellum
DNA Transposable Elements
Family
Female
Frontal Lobe
Hippocampus
Humans
Japan
Male
Molecular Sequence Data
Mutation
Pedigree
Prion Diseases
Tomography, X-Ray Computed

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