NR AEGS
AU Furukawa,H.; Kitamoto,T.; Hashiguchi,H.; Tateishi,J.
TI A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210
QU Journal of the Neurological Sciences 1996 Sep 15; 141(1-2): 120-2
PT journal article
AB We screened 111 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 75 healthy control subjects in Japan to detect possible polymorphisms in their prion protein gene (PRNP). We identified a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 69-year-old CJD patient. This substitution was not seen in 75 healthy control subjects.
IN Bei einem 69 Jahre alten Creutzfeldt-Jakob-Patienten wurde eine Valin zu Isoleucin - Punktmutation im Codon 210 festgestellt, die 75 gesunde Menschen, anscheinend aber auch 110 andere Creutzfeldt-Jakob-Patienten nicht besaßen.
ZR 5
MH Aged; Case Report; Creutzfeldt-Jakob Syndrome/*genetics; DNA Probes; Family Health; Human; Male; *Point Mutation; Polymerase Chain Reaction; Prions/*genetics; Support, Non-U.S. Gov't
AD Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
SP englisch
PO Niederlande