The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?
Lee
Peiyee
P
Department of Neurology, University of California Los Angeles, 90095-1769, USA.
Medina
Luis
L
Ringman
John M
JM
D000544:Alzheimer Disease / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D013912:Threonine / Q000235:genetics*
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D013912:Threonine