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rdf:type |
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lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0039082,
umls-concept:C0040648,
umls-concept:C0079904,
umls-concept:C0184047,
umls-concept:C0205217,
umls-concept:C0205314,
umls-concept:C0332182,
umls-concept:C0332281,
umls-concept:C0521447,
umls-concept:C0597357,
umls-concept:C0679622,
umls-concept:C1275126,
umls-concept:C1363984,
umls-concept:C1456820,
umls-concept:C1521761,
umls-concept:C1879547
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pubmed:issue |
11
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pubmed:dateCreated |
2008-10-15
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pubmed:abstractText |
To characterise and investigate the functional consequences of a novel TNFRSF1A splice site mutation causing tumour necrosis factor receptor associated periodic syndrome (TRAPS) in a 16-year-old male patient and his mother.
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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 |
Nov
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pubmed:issn |
1468-2060
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pubmed:author |
pubmed-author:BaguleyEE,
pubmed-author:ChurchL DLD,
pubmed-author:ChurchmanS MSM,
pubmed-author:CoulthardL RLR,
pubmed-author:EmeryPP,
pubmed-author:GooiH CHC,
pubmed-author:HaywardBB,
pubmed-author:HitmanG AGA,
pubmed-author:MathewsR JRJ,
pubmed-author:McDermottM FMF,
pubmed-author:NedjaiBB,
pubmed-author:SavicSS,
pubmed-author:TurnerM DMD,
pubmed-author:WoodP M DPM
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pubmed:issnType |
Electronic
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1589-95
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:18086728-Adolescent,
pubmed-meshheading:18086728-Cytokines,
pubmed-meshheading:18086728-DNA Mutational Analysis,
pubmed-meshheading:18086728-Familial Mediterranean Fever,
pubmed-meshheading:18086728-Female,
pubmed-meshheading:18086728-Humans,
pubmed-meshheading:18086728-Male,
pubmed-meshheading:18086728-Middle Aged,
pubmed-meshheading:18086728-Mutation,
pubmed-meshheading:18086728-NF-kappa B,
pubmed-meshheading:18086728-RNA Splice Sites,
pubmed-meshheading:18086728-Receptors, Tumor Necrosis Factor, Type I,
pubmed-meshheading:18086728-Transcriptional Activation
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pubmed:year |
2008
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pubmed:articleTitle |
A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).
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pubmed:affiliation |
Section of Musculoskeletal Disease, Leeds Institute of Molecular Medicine, Leeds, UK.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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