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Article

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

American journal of human genetics - 1 Jan 1998

Tysoe C, Whittaker J, Xuereb J, Cairns N J, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein D C

Abstract excerpt

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 single mutation, a deletion of a G from the intron 4 splice-donor consensus sequence, was detected in two individuals in...

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Identifiers

PMID: 9443865
DOI: 10.1086/301672
PMCID: PMC1376799

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