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Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene

ABSTRACT. Familial fatal insomnia (FFI) is fatal disorder characterized by damage to select thalamic nuclei, together with progressive insomnia and dysautonomia. In subjects carrying the D178N prion protein (PRNP) mutation, distinct phenotypes can be observed, depending on the methionine (Met) /vali...

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Bibliografiske detaljer
Udgivet i:Prion
Main Authors: Sun, Lin, Li, Xia, Lin, Xiang, Yan, Feng, Chen, Kathryn, Xiao, Shifu
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4601199/
https://ncbi.nlm.nih.gov/pubmed/26074146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336896.2015.1054601
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