Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Publications

Heckmann J, de Viliers C, Rutherfoord S, Ramesar R, Morris C, Low R, Kalaria R. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous South African family with early-onset Alzheimer's disease. Neurobiology of Aging 23 (1S): S321, 2002

Mutations

PSEN1: (Ile143Met)

ID: 130


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


Selection:
Publication ID In (130)



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