New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome.

doi:10.1016/0169-328x(95)00034-p

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Article

New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome.

Brain research. Molecular brain research - 1 Jun 1995

Furukawa H, Kitamoto T, Tanaka Y, Tateishi J

Abstract excerpt

We found novel variants in the open reading frame of the prion protein (PrP) gene in a family with Gerstmann-Sträussler syndrome (GSS). Codon 219Lys variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and codon 219L...

Topics

Adult
Family
Female
Gene Expression
Gerstmann-Straussler-Scheinker Disease
Humans
Immunohistochemistry
Male
Middle Aged
Mutation
Pedigree
Polymerase Chain Reaction
Prions

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