Ting SK, Benzinger T, Kepe V, Fagan A, Coppola G, Porter V, Hecimovic S, Chakraverty S, Alvarez-Retuerto AI, Goate A, Ringman JM. A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman. J Alzheimers Dis. 2014;40(2):271-5. PubMed.

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Mutations

  1. PSEN1 I238M