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rdf:type |
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lifeskim:mentions |
|
|
pubmed:issue |
10
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|
pubmed:dateCreated |
1997-2-12
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|
pubmed:abstractText |
Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene. In this study, elucidation of intron/exon boundary sequences revealed that PS-2 is encoded by 10 coding exons. In addition, PS-2 cDNA cloning and RT-PCR using RNA from a variety of normal tissues revealed the presence of alternatively spliced products. These products included species with in frame omissions of exon 8 and simultaneous omissions of exons 3 and 4.
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pubmed:grant |
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
0959-4965
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|
pubmed:author |
pubmed-author:AdamsM DMD,
pubmed-author:ClarkR FRF,
pubmed-author:CrookRR,
pubmed-author:DuffKK,
pubmed-author:FuldnerR ARA,
pubmed-author:GoateAA,
pubmed-author:HardyJJ,
pubmed-author:HuttonMM,
pubmed-author:KarrayHH,
pubmed-author:LincolnSS,
pubmed-author:OOIS KSK,
pubmed-author:Perez-TurJJ,
pubmed-author:PhilipsC ACA,
pubmed-author:PotterHH,
pubmed-author:PriharGG,
pubmed-author:RobertsG WGW,
pubmed-author:TalbotCC,
pubmed-author:VenterCC
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|
pubmed:issnType |
Print
|
|
pubmed:day |
8
|
|
pubmed:volume |
7
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1680-4
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|
pubmed:dateRevised |
2007-11-14
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|
pubmed:meshHeading |
|
|
pubmed:year |
1996
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|
pubmed:articleTitle |
Structure and alternative splicing of the presenilin-2 gene.
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|
pubmed:affiliation |
Suncoast Alzheimer's Disease Laboratories, 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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