Biomarker‐informed characterization of an ABCA7 tandem repeat expansion in a family with early‐onset Alzheimer’s Disease

Abstract

Background: ATP‐binding cassette transporter A7 ( ABCA7 ) has been genetically implicated in Alzheimer’s Disease (AD). A recent study by De Roeck et al. (2018) suggested a variable number tandem repeat (VNTR) in intron 18 of ABCA7 is a driver of the genetic signal at this locus.

The paper