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Nucleic Acids Res. 1994 Sep;22(17):3556-9.
2
Antithrombin III: a database of mutations.抗凝血酶III：突变数据库
Thromb Haemost. 1991 Dec 2;66(6):657-61.
3
A review of mutations causing deficiencies of antithrombin, protein C and protein S.
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4
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Semin Hematol. 1997 Jul;34(3):188-204.
5
Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.抗凝血酶III突变数据库：首次更新。由国际血栓与止血协会科学与标准化委员会凝血酶及其抑制剂小组委员会发布。
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6
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7
CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction.CpG二核苷酸是抗凝血酶III基因中的突变“热点”。使用聚合酶链反应鉴定出12种变体。
Mol Biol Med. 1989 Jun;6(3):239-43.
8
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Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.凝血酶原酶抑制物 1 基因突变类型和抗凝血酶缺乏症亚型对遗传性抗凝血酶缺乏症血栓表型的影响。
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本文引用的文献

1
Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.抗凝血酶基因的完整核苷酸序列：同源重组导致血栓形成倾向的证据。
Biochemistry. 1993 Apr 27;32(16):4216-24. doi: 10.1021/bi00067a008.
2
Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.抗凝血酶III突变数据库：首次更新。由国际血栓与止血协会科学与标准化委员会凝血酶及其抑制剂小组委员会发布。
Thromb Haemost. 1993 Aug 2;70(2):361-9.
3
Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening.
Br J Haematol. 1993 Aug;84(4):656-61. doi: 10.1111/j.1365-2141.1993.tb03142.x.
4
Nomenclature of quantities and units in thrombosis and haemostasis (recommendation 1993). A Collaborative project of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis (ISTH/SSC) and the Commission/Committee on Quantities and Units (in Clinical Chemistry) of the International Union of Pure and Applied Chemistry-International Federation of Clinical Chemistry (IUPAC-IFCC/CQU(CC)).血栓形成与止血领域的量和单位命名法（1993年建议）。国际血栓与止血学会科学与标准化委员会（ISTH/SSC）与国际纯粹与应用化学联合会 - 国际临床化学联合会临床化学量和单位委员会（IUPAC - IFCC/CQU(CC)）的合作项目。
Thromb Haemost. 1994 Mar;71(3):375-94.
5
The molecular genetics of antithrombin deficiency.抗凝血酶缺乏症的分子遗传学
Br J Haematol. 1994 Jun;87(2):221-6. doi: 10.1111/j.1365-2141.1994.tb04902.x.
6
Heterogeneity of the "classical" antithrombin III deficiency.“经典型”抗凝血酶III缺乏症的异质性
Thromb Haemost. 1980 Jun 18;43(2):133-6.
7
The site in human antithrombin for functional proteolytic cleavage by human thrombin.人凝血酶对人抗凝血酶进行功能性蛋白水解切割的位点。
FEBS Lett. 1981 Apr 20;126(2):257-60. doi: 10.1016/0014-5793(81)80255-4.
8
Antithrombin III deficiency and thromboembolism.抗凝血酶III缺乏与血栓栓塞
Clin Haematol. 1981 Jun;10(2):369-90.
9
The active site of antithrombin. Release of the same proteolytically cleaved form of the inhibitor from complexes with factor IXa, factor Xa, and thrombin.抗凝血酶的活性位点。从与因子IXa、因子Xa和凝血酶形成的复合物中释放出相同的经蛋白水解切割的抑制剂形式。
J Biol Chem. 1982 Mar 10;257(5):2406-11.
10
Hereditary antithrombin III deficiency: biochemical aspects.遗传性抗凝血酶III缺乏症：生化方面
Haematologia (Budap). 1984;17(1):81-6.

抗凝血酶III：首个数据库更新总结

Antithrombin III: summary of first database update.

作者信息

Lane D A, Olds R J, Thein S L

机构信息

Charing Cross and Westminster Medical School, Hammersmith, London, UK.

出版信息

Nucleic Acids Res. 1994 Sep;22(17):3556-9.

PMID:7937056
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC308318/
Abstract

Antithrombin III is the most important inhibitor of coagulation proteinases such as thrombin and factor Xa. Inherited deficiency of antithrombin III is a well recognised risk factor for the early development of venous thromboembolism. The gene for antithrombin III is located at chromosome 1q 23-25 and its structural organisation has been described. A database of mutations of the antithrombin III gene has been compiled and a recent update lists 184 entries. These entries are listed according to subtype of deficiency and to nucleotide sequence number. There are 68 reports of type I 'classical' and 116 reports of type II 'variant' deficiencies. This summary considers the entries in terms of the number of unique molecular events, the nature of the genetic defects and the role of CpG dinucleotides in deficiency. Sample listings of type I and II deficiency entries are provided.

摘要

抗凝血酶III是凝血蛋白酶（如凝血酶和Xa因子）最重要的抑制剂。遗传性抗凝血酶III缺乏是静脉血栓栓塞早期发展的一个公认危险因素。抗凝血酶III基因位于1号染色体q23-25，其结构组织已被描述。已编制了抗凝血酶III基因突变数据库，最近的一次更新列出了184条记录。这些记录根据缺乏亚型和核苷酸序列号列出。有68份I型“经典”缺乏报告和116份II型“变异”缺乏报告。本综述从独特分子事件的数量、遗传缺陷的性质以及CpG二核苷酸在缺乏中的作用等方面考虑这些记录。提供了I型和II型缺乏记录的样本列表。