O'Riordan S, McMonagle P, Janssen JC, Fox NC, Farrell M, Collinge J, Rossor MN, Hutchinson M. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. Neurology. 2002 Oct 8;59(7):1108-10. PubMed.

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Mutations

  1. PSEN1 E280G