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Paper Details

The presenilin-1 οE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells.
Cell Rep
141
2013
APP, E9 mutation, FAD, FAD PS1 mutations, PS1, PS1 FAD mutations, PS1 missense mutations, PS1 mutations, Presenilin 1, allelic series, amyloid precursor protein, cell type, familial Alzheimer's disease, human, isogenic euploid human induced pluripotent stem cell lines, isogenic human stem cells, mouse, presenilin-1, presenilin-1 E9 mutation, purified, purified neurons, secretase, type 1 transmembrane proteins

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