Article
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
Annals of neurology - 1 Dec 1998
Mattila K M, Forsell C, Pirttilä T, Rinne J O, Lehtimäki T, Röyttä M, Lilius L, Eerola A, St George-Hyslop P H, Frey H, Lannfelt L
Abstract excerpt
In early-onset familial Alzheimer's disease (AD) pathogenic mutations have been found in the amyloid precursor protein (APP) gene and in the presenilin (PS)-1 and PS-2 genes. We screened for mutations in these genes in 20 patients with familial AD from the Finnish population. In addition, we sampled 41 sporadic AD patients and 59 controls to test for mutations identified in our familial AD cases. We detected an...
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