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Showing 1 to 2 of 2 for “"E280A mutation"”.

  1. Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree

    Vélez Valbuena, Jorge Iván2015

    … Paisa genetic isolate in which the p.Glu280Ala (E280A) fully penetrant mutation in the Presenilin-1 (PSEN1) gene causes early-onset familial AD (fAD). One of the most intriguing aspects of this pedigree is the broad spectrum of the AD age of onset (ADAOO) that ranges from the earliest 30s to the …

    aus-cath Repository record

  2. Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree

    Vélez Valbuena, Jorge Iván2015

    … Paisa genetic isolate in which the p.Glu280Ala (E280A) fully penetrant mutation in the Presenilin-1 (PSEN1) gene causes early-onset familial AD (fAD). One of the most intriguing aspects of this pedigree is the broad spectrum of the AD age of onset (ADAOO) that ranges from the earliest 30s to the …

    anu Repository record