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Article

Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal of Alzheimer's disease : JAD - 1 Jan 2015

Denvir James, Neitch Shirley, Fan Jun, Niles Richard M, Boskovic Goran, Schreurs Bernard G, Primerano Donald A, Alkon Daniel L

Abstract excerpt

BACKGROUND: Early onset dementias have variable clinical presentations and are often difficult to diagnose. We established a family pedigree that demonstrated consistent recurrence of very early onset dementia in successive generations. OBJECTIVE AND METHOD: In order to refine the diagnosis in this family, we sequenced the exomes of two affected family members and relied on discrete filtering to identify disease...

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Identifiers

PMID: 25812849
DOI: 10.3233/JAD-150051
PMCID: PMC4583332

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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