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Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing.

作者信息

Olds R J, Lane D, Caso R, Tripodi A, Mannucci P M, Thein S L

机构信息

Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

出版信息

Nucleic Acids Res. 1989 Dec 25;17(24):10511. doi: 10.1093/nar/17.24.10511.

DOI:10.1093/nar/17.24.10511
PMID:2602168
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC335336/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/accb/335336/e73ec22ffd68/nar00141-0353-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/accb/335336/e73ec22ffd68/nar00141-0353-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/accb/335336/e73ec22ffd68/nar00141-0353-a.jpg

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Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing.抗凝血酶III米兰2型：通过聚合酶链反应（PCR）和直接基因组测序检测到凝血酶结合域中的单个碱基替换。
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本文引用的文献

1
The covalent nature of the human antithrombin III--thrombin bond.人抗凝血酶III与凝血酶键的共价性质。
Biochem J. 1980 Sep 1;189(3):481-9. doi: 10.1042/bj1890481.
2
Characterization of an abnormal antithrombin (Milano 2) with defective thrombin binding.
Thromb Haemost. 1986 Dec 15;56(3):349-52.
3
Site-directed mutagenesis of the reactive center (serine 394) of antithrombin III.抗凝血酶III反应中心（丝氨酸394）的定点诱变。
J Biol Chem. 1988 Nov 5;263(31):15849-52.
全外显子组测序揭示急性无诱因特发性致死性肺栓塞中的严重血栓形成倾向。
EBioMedicine. 2017 Mar;17:95-100. doi: 10.1016/j.ebiom.2017.01.037. Epub 2017 Jan 31.
4
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.抗凝血酶III（AT3）基因中的三个新错义突变导致复发性静脉血栓形成。
Hum Genet. 1994 Nov;94(5):509-12. doi: 10.1007/BF00211016.
5
Antithrombin III: summary of first database update.抗凝血酶III：首个数据库更新总结
Nucleic Acids Res. 1994 Sep;22(17):3556-9.
6
Pleiotropic effects of antithrombin strand 1C substitution mutations.抗凝血酶1C链替代突变的多效性作用
J Clin Invest. 1992 Dec;90(6):2422-33. doi: 10.1172/JCI116133.