. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp Neurol. 2006 Jul;200(1):82-8. PubMed.

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  1. This study and others imply that some of the PS mutations may induce pathological gain-of-function phenotypes.

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Mutations

  1. PSEN1 L424H
  2. PSEN1 L226F