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 219Lys polymorphism. While two families had a codon 102 mutation and codon 219Lys polymorphism in different alleles, 4...
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