Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrP(Sc) was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon...

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Hlavní autoři: Kim, Mee-Ohk, Cali, Ignazio, Oehler, Abby, Fong, Jamie C, Wong, Katherine, See, Tricia, Katz, Jonathan S, Gambetti, Pierluigi, Bettcher, Brianne M, DeArmond, Stephen J, Geschwind, Michael D
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3880091/
https://ncbi.nlm.nih.gov/pubmed/24330864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-1-80
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