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Article

A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.

Neurobiology of aging - 1 Mar 2011

Church Alistair, Prescott Junita, Lillis Suzanne, Rees Janice, Chance Patrick, Williamson Kathryn, Morris Huw R

Abstract excerpt

We report a novel presenilin-1 (PSEN1) mutation, I202F occurring in a Welsh kindred with familial Alzheimer's disease. The average age at onset was 53 years. The I202F mutation occurs in alignment with previously reported PSEN1 mutations in the fourth transmembrane domain and confirms that PSEN1 mutations line up along transmembrane alpha-helices.

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Source

Identifiers

PMID: 21144619
DOI: 10.1016/j.neurobiolaging.2010.09.030

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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