Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).
Hilton
D A
DA
Head
M W
MW
Singh
V K
VK
Bishop
M
M
Ironside
J W
JW
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*
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions