Article
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
Neuroreport - 5 Oct 1998
Taddei K, Kwok J B, Kril J J, Halliday G M, Creasey H, Hallupp M, Fisher C, Brooks W S, Chung C, Andrews C, Masters C L, Schofield P R, Martins R N
Abstract excerpt
Mutations in the presenilin-1 (PS-1) gene account for the majority of early onset autosomal-dominant familial Alzheimer's disease (FAD) cases. We identified three missense mutations in the coding sequence of the PS-1 gene in three early onset (EO), FAD pedigrees. Alzheimer's disease was confirmed in one pedigree by autopsy. Mutation analysis of PCR products amplified from genomic DNA templates of affected...
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