Clarimón J, Guerreiro R, Lleó A, Guardia C, Blesa F, Gómez-Isla T, Boada M, Bullido MJ, Ferrer I, Martínez-Lage P, Masdeu J, Molina L, Molinuevo JL, Pastor P, Pérez-Tur J, Rey MJ, Sánchez-Valle R, Tàrraga L, Valdivieso F, Singleton A, Hardy J. Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: novel mutations in the amyloid precursor protein and presenilines. Alzheimer's & Dementia 4 Supp 2: T583, 2008

Mutations

APP: (Ile716Phe)
PSEN1: (His214Asp) (Leu248Arg) (Ser365Ala)
PSEN2: (Met174Val)

ID: 539

Andreoli V, Trecroci F, La Russa A, Di Palma G, Quattrone A, Cittadella R. Gene symbol: PSEN2. Disease: Alzheimer disease. Human Genetics 124: 304, 2008 (PubMed ID: 18846634)

Mutations

PSEN2: (Met174Val)

ID: 569

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