Article
Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.
Molecular psychiatry - 1 Jan 2002
Taddei K, Fisher C, Laws S M, Martins G, Paton A, Clarnette R M, Chung C, Brooks W S, Hallmayer J, Miklossy J, Relkin N, St George-Hyslop P H, Gandy S E, Martins R N
Abstract excerpt
Mutations in the presenilin-1 (PS-1) gene on chromosome 14 account for the majority of early-onset familial Alzheimer's disease (FAD) cases. To date, more than 90 mutations have been identified and, while most of these mutations are completely penetrant, the Glu318Gly mutation has been suggested to be partially penetrant. These findings indicate that it may play a similar role to apolipoprotein E (APOE)-epsilon4...
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