title: De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease.
authors.forename: M
authors.initials: M
authors.lastname: Kojović
authors.forename: D
authors.initials: D
authors.lastname: Glavač
authors.forename: B
authors.initials: B
authors.lastname: Ožek
authors.forename: A
authors.initials: A
authors.lastname: Zupan
authors.forename: M
authors.initials: M
authors.lastname: Popović
mesh_terms: D000328:Adult; D001259:Ataxia / Q000209:etiology; D001921:Brain / Q000473:pathology; D003062:Codon / Q000235:genetics; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D016098:Gerstmann-Straussler-Scheinker Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D058225:Plaque, Amyloid; D017354:Point Mutation; D018620:PrPSc Proteins / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: D003062:Codon; C512656:PRNP protein, human; D018620:PrPSc Proteins; D000072002:Prion Proteins; D011328:Prions