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A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

We have examined genomic DNA from 40 cases of autopsy-confirmed early-onset Alzheimer disease (EOAD) (age at onset <=65 years) that were all unselected for family history. We have sequenced the 10 exons and flanking intronic sequences of the presenilin-1 (PS-1) gene for all 40 individuals. A sing...

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Main Authors: Tysoe, C, Whittaker, J, Xuereb, J, Cairns, N J, Cruts, M, Van Broeckhoven, C, Wilcock, G, Rubinsztein, D C
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1998
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376799/
https://ncbi.nlm.nih.gov/pubmed/9443865
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