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Article

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.

Human mutation - 1 Jan 1999

Palmer M S, Beck J A, Campbell T A, Humphries C B, Roques P K, Fox N C, Harvey R, Rossor M N, Collinge J

Abstract excerpt

Familial Alzheimer's disease (AD) is an autosomal dominant disorder characterized by memory impairment and multiple cognitive deficits which occurs in mid to late life. Early onset AD has been associated with mutations in three genes, of which presenilin 1 (PS1) mutations are the most frequent. W...

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Identifiers

PMID: 10090481
DOI: 10.1002/(sici)1098-1004(1999)13:3<256::aid-humu11>3.0.co;2-p

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10090481-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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