Arber C, Villegas-Llerena C, Toombs J, Pocock JM, Ryan NS, Fox NC, Zetterberg H, Hardy J, Wray S. Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout. Brain Commun. 2019;1(1):fcz024. Epub 2019 Oct 14 PubMed.

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Mutations

  1. PSEN1 L113_I114insT (Intron 4)