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A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease.

OBJECTIVE: A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene. However, clinical features were not detailed and pathological studies were n...

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Detalhes bibliográficos
Main Authors: Tanaka, Y, Minematsu, K, Moriyasu, H, Yamaguchi, T, Yutani, C, Kitamoto, T, Furukawa, H
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC486847/
https://ncbi.nlm.nih.gov/pubmed/9153600
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