Martikainen P, Pikkarainen M, Pöntynen K, Hiltunen M, Lehtovirta M, Tuisku S, Soininen H, Alafuzoff I. Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation. Neuropathol Appl Neurobiol. 2010 Feb;36(1):41-54. Epub 2009 Oct 22 PubMed.

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Mutations

  1. PSEN1 P264L