Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A. Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010;19(3):873-84. PubMed.

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Mutations

  1. PSEN1 F105V
  2. PSEN1 E120G
  3. PSEN1 V261L
  4. PSEN1 I439S
  5. PSEN1 P117R
  6. PSEN1 H163R
  7. PSEN1 L282R
  8. PSEN1 L226F