Article
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
Biochemical and biophysical research communications - 19 Feb 2018
Ito Yoko, Sanjo Nobuo, Hizume Masaki, Kobayashi Atsushi, Ohgami Tetsuya, Satoh Katsuya, Hamaguchi Tsuyoshi, Yamada Masahito, Kitamoto Tetsuyuki, Mizusawa Hidehiro, Yokota Takanori
Abstract excerpt
Valine-to-isoleucine substitution at codon 180 of the prion protein gene is only observed in patients with Creutzfeldt-Jakob disease and accounts for approximately half of all cases of genetic prion disease in Japan. In the present study, we investigated the biochemical characteristics of valine-to-isoleucine substitution at codon 180 in the prion protein gene, using samples obtained from the autopsied brains of...
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