Liu CY, Ohki Y, Tomita T, Osawa S, Reed BR, Jagust W, Van Berlo V, Jin LW, Chui HC, Coppola G, Ringman JM. Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease. J Alzheimers Dis. 2017;58(4):1035-1041. PubMed.

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Mutations

  1. PSEN1 P88L
  2. PSEN1 V89L (G>C)