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篇目详细内容 |
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【篇名】 |
662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9) |
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【刊名】 |
Frontiers of Medicine in China |
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【刊名缩写】 |
Front. Med. China |
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【ISSN】 |
1673-7342 |
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【EISSN】 |
1673-7458 |
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【DOI】 |
10.1007/s11684-008-0053-7 |
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【出版社】 |
Higher Education Press and Springer-Verlag |
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【出版年】 |
2008 |
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【卷期】 |
2
卷3期 |
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【页码】 |
283-285
页,共
3
页 |
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【作者】 |
QU Yanchun;
YANG Ze;
SUN Liang;
JI Linong;
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【关键词】 |
diabetes mellitus; single nucleotide polymorphism; TNFRSF9 gene; antigens, CD137; immune regulation |
【摘要】 |
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The aim of this paper is to report a new coding variance of the TNFRSF9 gene, a candidate for autoimmune diseases. We found the variation in two families with type 2 diabetes mellitus by D-HPLC mutation screening method and confirmed our results by direct sequencing and PCR-RFLP. Although without changing the amino acid coding, the variance may have an effect on codon usage and play a role in disease development, such as type 2 diabetes mellitus. However, we cannot define the role of this variance because the frequency of the minor allele is low in the Chinese population and no homozygote of the variance was found. More research in multiple populations will be necessary to define the role of this variance. |
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