Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Puccio G, Colao R, Frangipane F, Mirabelli M, Smirne N, Giovanni Maletta R, Bruni AC. Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism. Journal of Neurology 255: 604-606, 2008 (PubMed ID: 18350357)

Mutations

PSEN1: (Glu318Gly)
PSEN2: (Val139Met)

ID: 514

Gallo M, Tomaino C, Bernardi L, Maletta R, Anfossi M, Geracitano S, VassoF, Puccio G, Colao R, Frangipane G, Mirabelli M, Smirne N, Muraca MG, De Vito O, Bruni AC. PS1 polymporphism and a novel PS2 mutation in a patient with late-onset familial Alzheimer's disease. Alzheimer's & Dementia 4 Supp 2: T585, 2008

Mutations

PSEN1: (Glu318Gly)
PSEN2: (Val139Met)

ID: 607


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (514,607)



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