title: A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
authors.affiliation: INSERM EPI 9906, Faculté de Médecine et de Pharmacie, IRFMP, Rouen 76031 France; INSERM U 289 Hopital Salpétrière 75013, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Raux
authors.forename: R
authors.initials: R
authors.lastname: Gantier
authors.forename: C
authors.initials: C
authors.lastname: Martin
authors.forename: Y
authors.initials: Y
authors.lastname: Pothin
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
authors.forename: D
authors.initials: D
authors.lastname: Campion
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D053764:Presenilin-1; D014633:Valine / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D007930:Leucine; D014633:Valine