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Article

Clinical, neuropathologic, and biochemical profile of the amyloid precursor protein I716F mutation.

Journal of neuropathology and experimental neurology - 1 Jan 2010

Guardia-Laguarta Cristina, Pera Marta, Clarimón Jordi, Molinuevo José Luis, Sánchez-Valle Raquel, Lladó Albert, Coma Mireia, Gómez-Isla Teresa, Blesa Rafael, Ferrer Isidre, Lleó Alberto

Abstract excerpt

We report the clinical, pathologic, and biochemical characteristics of the recently described amyloid precursor protein (APP) I716F mutation. We present the clinical findings of individuals carrying the APP I716F mutation and the neuropathologic examination of the proband. The mutation was found in a patient with Alzheimer disease with onset at the age of 31 years and death at age 36 years and who had a positive...

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Identifiers

PMID: 20010303
DOI: 10.1097/NEN.0b013e3181c6b84d

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APP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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