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rdf:type |
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lifeskim:mentions |
umls-concept:C0008643,
umls-concept:C0008651,
umls-concept:C0017258,
umls-concept:C0054941,
umls-concept:C0392752,
umls-concept:C0599697,
umls-concept:C0679058,
umls-concept:C1413207,
umls-concept:C1420018,
umls-concept:C1547699,
umls-concept:C2700640
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pubmed:issue |
3
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pubmed:dateCreated |
2000-4-25
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pubmed:databankReference |
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pubmed:abstractText |
The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd), was isolated from a human Chromosome (Chr) 1 cosmid library (LLNL, UK HGMP). The gene spans 11 kilobases and contains nine exons and eight introns. Four alternative transcript variants were observed in activated T cells. Three single-nucleotide polymorphisms were identified within intron 2. A variable number of GA repeats was found at position -340 from the first coding ATG. Linkage analysis using this marker in eight CEPH families showed that the SH2D2A gene is located close to the D1S2624 marker on Chr 1q21-1q22. Physical mapping of a PAC and BAC contig containing the CD1 gene cluster telomeric to D1S2624 failed to identify a clone harboring the SH2D2A gene. Thus the SH2D2A gene is located centromeric to the CD1 gene cluster on Chr 1.
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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 |
Mar
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pubmed:issn |
0093-7711
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
179-85
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:10752626-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:10752626-Alternative Splicing,
pubmed-meshheading:10752626-Antigens, CD1,
pubmed-meshheading:10752626-Base Sequence,
pubmed-meshheading:10752626-Carrier Proteins,
pubmed-meshheading:10752626-Centromere,
pubmed-meshheading:10752626-Chromosome Mapping,
pubmed-meshheading:10752626-Chromosomes, Human, Pair 1,
pubmed-meshheading:10752626-Cloning, Molecular,
pubmed-meshheading:10752626-DNA, Complementary,
pubmed-meshheading:10752626-Humans,
pubmed-meshheading:10752626-Molecular Sequence Data,
pubmed-meshheading:10752626-Multigene Family,
pubmed-meshheading:10752626-Polymorphism, Single Nucleotide,
pubmed-meshheading:10752626-Promoter Regions, Genetic,
pubmed-meshheading:10752626-Sequence Analysis, DNA,
pubmed-meshheading:10752626-T-Lymphocytes,
pubmed-meshheading:10752626-src Homology Domains
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pubmed:year |
2000
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pubmed:articleTitle |
The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene cluster on human Chromosome 1.
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pubmed:affiliation |
Institute of Immunology, The National Hospital, Oslo, Norway.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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