Article
Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.
Brain : a journal of neurology - 1 Dec 2000
Singleton A B, Hall R, Ballard C G, Perry R H, Xuereb J H, Rubinsztein D C, Tysoe C, Matthews P, Cordell B, Kumar-Singh S, De Jonghe C, Cruts M, van Broeckhoven C, Morris C M
Abstract excerpt
Most cases of familial presenile Alzheimer's disease are caused by mutations in the presenilin-1 (PSEN-1) gene, most of these mutations being missense mutations. A mutation in the splice donor site of intron 4 of PSEN-1 has been described recently which results in aberrant splicing of PSEN-1 mRNA, causing insertion of an additional amino acid, Thr113-114ins, into the protein. We studied the neuropathology of four...
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