Denvir J, Neitch S, Fan J, Niles RM, Boskovic G, Schreurs BG, Primerano DA, Alkon DL. Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia. J Alzheimers Dis. 2015 May 30;46(2):483-90. PubMed.

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Mutations

  1. PSEN1 T147I