Article
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.
Acta neuropathologica - 1 Jun 2018
De Roeck Arne, Duchateau Lena, Van Dongen Jasper, Cacace Rita, Bjerke Maria, Van den Bossche Tobi, Cras Patrick, Vandenberghe Rik, De Deyn Peter P, Engelborghs Sebastiaan, Van Broeckhoven Christine, Sleegers Kristel
Abstract excerpt
Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer's disease (AD). The influence of other genetic variants in ABCA7 and downstream functional mechanisms, however, is poorly understood. To address this knowledge gap, we investigated tandem repetitive regions in ABCA7 in a Belgian cohort of 1529 AD patients and control...
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