Farlow MR, Murrell J, Unverzagt FW, Phillips M, Takao M, Ghetti B, Hulette C. Familial Alzheimer's disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene. In: Alzheimer's Disease: Advances in Etiology, Pathogenesis and Therapeutics. 2001. Chapter 6. pp53-60.

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Mutations

  1. PSEN1 V261F