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Article

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

Annals of neurology - 1 Jul 1997

Crook R, Ellis R, Shanks M, Thal L J, Perez-Tur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D

Abstract excerpt

We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds. The phenotype of PS1 N135D is an early-onset (34-38 years) disease. The mutation forms part of, and extends, the alpha-...

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Source

Identifiers

PMID: 9225696
DOI: 10.1002/ana.410420121

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9225696-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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