Gantier R, Dumanchin C, Campion D, Loutelier C, Lange C, Gagnon J, Davoust D, Frébourg T, Toma F. The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop. Neuroreport. 1999 Sep 29;10(14):3071-4. PubMed.

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Mutations

  1. PSEN1 L392V