Luedecke D, Becktepe JS, Lehmbeck JT, Finckh U, Yamamoto R, Jahn H, Boelmans K. A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. Neurosci Lett. 2014 Apr 30;566:115-9. Epub 2014 Feb 26 PubMed.

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Mutations

  1. PSEN1 A275V