Publications

Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. Journal of Medical Genetics 42: 793-795, 2005 (PubMed ID: 16033913)

Mutations

APP: (Thr714Ile, Austrian APP) (Val717Ile; London APP)
PSEN1: (Arg35Gln) (Phe105Ile) (Thr116Asn) (Thr116Ile) (Glu120Asp) (Ile143Asn) (Ile143Thr) (Leu153Val) (Phe177Leu) (Gly206Ser) (Gly206Asp) (His214Tyr) (Met233Thr) (Pro264Leu) (Glu280Gly) (Glu318Gly) (Phe386Ser) (Val391Phe) (Leu392Val) (Leu424His)

ID: 376

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

Selection:
Publication ID In (376)

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Publications