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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6534
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pubmed:dateCreated |
1995-8-3
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pubmed:databankReference |
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40391,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40392,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40393,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40394,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40395,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40396,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40397,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40398,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40399,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40400,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40401,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40402,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L40403,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L42110,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L42177,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76517,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76518,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76519,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76520,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76521,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76522,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76523,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76524,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76525,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76526,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76527,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/L76528
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pubmed:abstractText |
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.
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pubmed:grant |
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pubmed:commentsCorrections |
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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 |
Jun
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pubmed:issn |
0028-0836
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pubmed:author |
pubmed-author:BrookesAA,
pubmed-author:BruniA CAC,
pubmed-author:ChoFF,
pubmed-author:ChumakovII,
pubmed-author:Da SilvaH AHA,
pubmed-author:FoncinJ FJF,
pubmed-author:FraserP EPE,
pubmed-author:GOHK OKO,
pubmed-author:HainesJ LJL,
pubmed-author:HolmanKK,
pubmed-author:IkedaMM,
pubmed-author:LevesqueGG,
pubmed-author:LiangYY,
pubmed-author:LiuJJ,
pubmed-author:MaiGG,
pubmed-author:MontesiM PMP,
pubmed-author:OGISS,
pubmed-author:Perkicak-VanceM AMA,
pubmed-author:PinessiLL,
pubmed-author:PolinskyR JRJ,
pubmed-author:PolletBB,
pubmed-author:RaineroII,
pubmed-author:RogaevE IEI,
pubmed-author:RogaevaE AEA,
pubmed-author:RommensJ MJM,
pubmed-author:RosesA DAD,
pubmed-author:SanseauPP,
pubmed-author:SherringtonRR,
pubmed-author:SorbiSS,
pubmed-author:St George-HyslopP HPH,
pubmed-author:TanziR ERE,
pubmed-author:TsudaTT,
pubmed-author:WascoWW
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pubmed:issnType |
Print
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pubmed:day |
29
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pubmed:volume |
375
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pubmed:geneSymbol |
S182
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
754-60
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pubmed:dateRevised |
2010-12-17
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pubmed:meshHeading |
pubmed-meshheading:7596406-Humans,
pubmed-meshheading:7596406-Animals,
pubmed-meshheading:7596406-Mice,
pubmed-meshheading:7596406-Alzheimer Disease,
pubmed-meshheading:7596406-Mutation,
pubmed-meshheading:7596406-Female,
pubmed-meshheading:7596406-Male,
pubmed-meshheading:7596406-Membrane Proteins,
pubmed-meshheading:7596406-Base Sequence,
pubmed-meshheading:7596406-Pedigree,
pubmed-meshheading:7596406-Amino Acid Sequence
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