title: Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).
authors.forename: D A
authors.initials: DA
authors.lastname: Hilton
authors.forename: M W
authors.initials: MW
authors.lastname: Head
authors.forename: V K
authors.initials: VK
authors.lastname: Singh
authors.forename: M
authors.initials: M
authors.lastname: Bishop
authors.forename: J W
authors.initials: JW
authors.lastname: Ironside
mesh_terms: D019943:Amino Acid Substitution; D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009154:Mutation; D009929:Organ Size; D058225:Plaque, Amyloid / Q000473:pathology; D017096:Prion Diseases / Q000235:genetics* / Q000473:pathology*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions