Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.
Puoti
G
G
Rossi
G
G
Giaccone
G
G
Awan
T
T
Lievens
P M
PM
Defanti
C A
CA
Tagliavini
F
F
Bugiani
O
O
D000368:Aged; D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011328:Prions / Q000235:genetics*
D003062:Codon; D011328:Prions