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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1996-11-5
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pubmed:abstractText |
The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0959-4965
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pubmed:author |
pubmed-author:AdamsM DMD,
pubmed-author:BakerMM,
pubmed-author:BusfieldFF,
pubmed-author:ClarkR FRF,
pubmed-author:ClineR TRT,
pubmed-author:CrookRR,
pubmed-author:DuffKK,
pubmed-author:GoateAA,
pubmed-author:HouldenHH,
pubmed-author:HuttonMM,
pubmed-author:KarrayHH,
pubmed-author:LendonCC,
pubmed-author:MartinezAA,
pubmed-author:NicholsAA,
pubmed-author:Perez-TurJJ,
pubmed-author:PhillipsC ACA,
pubmed-author:PhillipsHH,
pubmed-author:PriharGG,
pubmed-author:RobertsGG,
pubmed-author:RoquesPP,
pubmed-author:RossorMM,
pubmed-author:TalbotCC,
pubmed-author:VenterJ CJC,
pubmed-author:WraggMM,
pubmed-author:WrightKK
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pubmed:issnType |
Print
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pubmed:day |
29
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
801-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:8733749-Alzheimer Disease,
pubmed-meshheading:8733749-Base Sequence,
pubmed-meshheading:8733749-Cluster Analysis,
pubmed-meshheading:8733749-DNA Primers,
pubmed-meshheading:8733749-Exons,
pubmed-meshheading:8733749-Genetic Linkage,
pubmed-meshheading:8733749-Genome,
pubmed-meshheading:8733749-Great Britain,
pubmed-meshheading:8733749-Humans,
pubmed-meshheading:8733749-Ireland,
pubmed-meshheading:8733749-Membrane Proteins,
pubmed-meshheading:8733749-Molecular Sequence Data,
pubmed-meshheading:8733749-Mutation,
pubmed-meshheading:8733749-Open Reading Frames,
pubmed-meshheading:8733749-Presenilin-1
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pubmed:year |
1996
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pubmed:articleTitle |
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.
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pubmed:affiliation |
Department of Psychiatry, University of South Florida, Tampa 33613, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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