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Article

Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr)

8 Feb 2019

Abstract excerpt

INTRODUCTION: A small percentage of Alzheimer's disease (AD) cases are caused by genetic mutations with autosomal dominant inheritance. We report a family with a novel variant in PSEN1. METHODS: We performed clinical and genetic evaluation of 93 related individuals from a Colombian admixed population. 31 individuals had whole-genome sequencing. RESULTS: Genetic analysis revealed a missense variant in PSEN1...

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PMID: 30745123
DOI: 10.1016/j.jalz.2018.12.010

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