Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S, Penet C, Puel M, Pasquier F, Le Doze F, Bellis G, Clerget-Darpoux F, Agid Y, Frebourg T. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Human Molecular Genetics 4: 2373-2377, 1995 (PubMed ID: 8634712)

Mutations

PSEN1: (Val82Leu) (Tyr115His) (Met139Thr) (His163Arg) (Ala231Thr) (Pro264Leu) (Leu392Val) (Cys410Tyr)

ID: 3

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. American Journal of Human Genetics 65: 664-670, 1999 (PubMed ID: 10441572)

Mutations

APP: (Val715Met; French APP) (Val717Ile; London APP)
PSEN1: (Val82Leu) (Tyr115His) (Glu120Asp) (Met139Thr) (Met146Leu) (Thr147Ile) (His163Arg) (Trp165Cys) (Leu173Trp) (Ala231Thr) (Met233Thr) (Leu235Pro) (Pro264Leu) (Ser390Ile) (Leu392Val) (Cys410Tyr)

ID: 78