Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiology of Aging 31: 725-731, 2010 (PubMed ID: 18667258)

Mutations

APP: (Ile716Phe) (His733Pro)
PSEN1: (Arg35Gln) (Thr116Asn) (Val191Ala) (His214Asp) (Met233Thr) (Leu248Arg) (Ala260Val) (Val272Ala) (Ser365Ala)
PSEN2: (Arg29His) (Arg62His) (Arg71Trp) (Leu143His) (Met174Val) (Ala252Thr)

ID: 538