Clark RF, Hutton M, Fuldner RA, Froelich S, Karran E, Talbot C, Crook R, Lendon C, Prihar G, He C, Korenblat K, Martinez A, Wragg M, Busfield F, Behrens MI, Myers A, Norton J, Morris J, Mehta N, Pearson C, Lincoln C, Baker M, Duff K, Zehr C, Perez-Tur J, Houlden H, Ruiz A, Ossa J, Lopera F, Arcos M, Madrigal L, Collinge J, Humphreys C, Ashworth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Phillips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Viitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowdon J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genetics 11: 219-222, 1995 (PubMed ID: 7550356)

Mutations

PSEN1: (Met139Val) (Met146Leu) (Met146Val) (His163Tyr) (Pro267Ser) (Glu280Ala) (Glu280Gly)

ID: 13

Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter JC, Adams MD, Cline RT, Phillips CA, Fuldner RA, Hardy J, Goate A. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 7: 801-805, 1996 (PubMed ID: 8733749)

Mutations

PSEN1: (Glu120Lys) (Met139Val) (Leu250Ser) (Pro267Ser) (Glu280Gly) (Δ9)

ID: 9