Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.
Norton
J B
JB
Alzheimer Disease Research Center and the Departmentof Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
Cairns
N J
NJ
Chakraverty
S
S
Wang
J
J
Levitch
D
D
Galvin
J E
JE
Goate
A
A
D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D019943:Amino Acid Substitution / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000235:genetics; D001120:Arginine / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D058225:Plaque, Amyloid / Q000235:genetics* / Q000473:pathology; D053764:Presenilin-1 / Q000235:genetics*
D016229:Amyloid beta-Peptides; D053764:Presenilin-1; D001120:Arginine; D005998:Glycine