A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
Raux
G
G
INSERM EPI 9906, Faculté de Médecine et de Pharmacie, IRFMP, Rouen 76031 France; INSERM U 289 Hopital Salpétrière 75013, Paris, France.
Gantier
R
R
Martin
C
C
Pothin
Y
Y
Brice
A
A
Frebourg
T
T
Campion
D
D
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
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D007930:Leucine; D014633:Valine