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3 Result(s)
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Article
Open AccessA pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease
Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies reported several novel PSEN1 mutations among Asian. We describe a male with EOAD had a ...
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Article
Open AccessNovel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation.
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Article
Open AccessMutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients
Polymorphisms of the human prion protein gene (PRNP) contribute to the genetic determinants of Creutzfeldt-Jakob disease (CJD). Numerous polymorphisms in the promoter regions as well as the open reading frame of
