Heckmann J, de Viliers C, Rutherfoord S, Ramesar R, Morris C, Low R, Kalaria RN. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous South African family with early-onset Alzheimer's disease. Neurobiol Aging. 2002 Jul-Aug; 23(S1):321.

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Mutations

  1. PSEN1 I143M