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Article

Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides.

Journal of Alzheimer's disease : JAD - 1 Jan 2009

Ghidoni Roberta, Albertini Valentina, Squitti Rosanna, Paterlini Anna, Bruno Anna, Bernardini Silvia, Cassetta Emanuele, Rossini Paolo Maria, Squitieri Ferdinando, Benussi Luisa, Binetti Giuliano

Abstract excerpt

A novel missense mutation (T719P) in the amyloid-beta protein precursor (AbetaPP) gene was discovered in a 46-year old patient affected by early onset familial Alzheimer's disease. Using surface enhanced laser desorption/ionization mass spectrometry (SELDI-TOF MS), we determined mass profiles of amyloid-beta peptides (Abeta) in cerebrospinal fluid (CSF) of the AbetaPP mutated patient, healthy control subjects (n...

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Identifiers

PMID: 19584443
DOI: 10.3233/JAD-2009-1142

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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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