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Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

作者信息

Duchange N, Chassé J F, Cohen G N, Zakin M M

出版信息

Nucleic Acids Res. 1986 Mar 11;14(5):2408. doi: 10.1093/nar/14.5.2408.

DOI:10.1093/nar/14.5.2408
PMID:3960724
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC339667/
Abstract
摘要

相似文献

1
Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.抗凝血酶III周转基因：鉴定导致无症状性缺陷中精氨酸被半胱氨酸替代的一个点突变。
Nucleic Acids Res. 1986 Mar 11;14(5):2408. doi: 10.1093/nar/14.5.2408.
2
Molecular characterization of the antithrombin III tours deficiency.
Thromb Res. 1987 Jan 1;45(1):115-21. doi: 10.1016/0049-3848(87)90263-5.
3
Congenital antithrombin III deficiency (AT-III Kyoto): identification of a point mutation altering arginine-406 to methionine behind the reactive site.
Thromb Res. 1991 Oct 1;64(1):101-8. doi: 10.1016/0049-3848(91)90209-f.
4
Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.富山抗凝血酶III：遗传性异常抗凝血酶III中精氨酸-47被半胱氨酸取代，该抗凝血酶III缺乏肝素结合能力。
Proc Natl Acad Sci U S A. 1984 Jan;81(2):289-93. doi: 10.1073/pnas.81.2.289.
5
[Advances in the molecular biological study of hereditary antithrombin III deficiency].遗传性抗凝血酶III缺乏症的分子生物学研究进展
Zhonghua Xue Ye Xue Za Zhi. 1998 Mar;19(3):162-4.
6
Antithrombin III microheterogeneity in antithrombin III deficiency and in the antithrombin III abnormality, "antithrombin III Toyama".
Thromb Res. 1987 Jul 15;47(2):147-53. doi: 10.1016/0049-3848(87)90371-9.
7
A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop).
Thromb Res. 1991 Dec 1;64(5):621-5.
8
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.
9
The molecular pathology of inherited human antithrombin III deficiency.
Transfus Med Rev. 1989 Oct;3(4):264-81. doi: 10.1016/s0887-7963(89)70087-0.
10
[Clinical and genetic aspects of antithrombin III deficiency and abnormal antithrombin III].抗凝血酶III缺乏症及异常抗凝血酶III的临床与遗传学方面
Rinsho Ketsueki. 1991 May;32(5):481-6.

引用本文的文献

1
Molecular Mechanisms of the Impaired Heparin Pentasaccharide Interactions in 10 Antithrombin Heparin Binding Site Mutants Revealed by Enhanced Sampling Molecular Dynamics.增强采样分子动力学揭示 10 种抗凝血酶肝素结合位点突变体中肝素五糖相互作用受损的分子机制。
Biomolecules. 2024 Jun 4;14(6):657. doi: 10.3390/biom14060657.
2
The CpG dinucleotide and human genetic disease.CpG二核苷酸与人类遗传疾病。
Hum Genet. 1988 Feb;78(2):151-5. doi: 10.1007/BF00278187.
3
Diagnosis of genetic disease using recombinant DNA. Supplement.使用重组DNA进行遗传病诊断。增刊。
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
4
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
Am J Hum Genet. 1988 May;42(5):718-25.
5
Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.鸟氨酸转氨甲酰酶基因第5外显子中C到T的替换导致鸟氨酸转氨甲酰酶缺乏症。
Am J Hum Genet. 1989 Jul;45(1):123-7.
6
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.法布里病：α-半乳糖苷酶基因的六种基因重排和一个外显子点突变
J Clin Invest. 1989 Apr;83(4):1390-9. doi: 10.1172/JCI114027.
7
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
Am J Hum Genet. 1990 May;46(5):988-93.
8
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.

本文引用的文献

1
Antithrombin III Toyama: a hereditary abnormal antithrombin III of a patient with recurrent thrombophlebitis.富山抗凝血酶III：一名复发性血栓性静脉炎患者的遗传性异常抗凝血酶III 。
Thromb Res. 1983 Jul 15;31(2):305-17. doi: 10.1016/0049-3848(83)90333-x.
2
Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.富山抗凝血酶III：遗传性异常抗凝血酶III中精氨酸-47被半胱氨酸取代，该抗凝血酶III缺乏肝素结合能力。
Proc Natl Acad Sci U S A. 1984 Jan;81(2):289-93. doi: 10.1073/pnas.81.2.289.
3
Isolation of a cDNA clone for human antithrombin III.人抗凝血酶III的cDNA克隆的分离
J Biol Chem. 1983 Jul 10;258(13):8389-94.
4
An abnormal plasma antithrombin with no apparent affinity for heparin.一种对肝素无明显亲和力的异常血浆抗凝血酶。
Thromb Res. 1984 May 15;34(4):297-302. doi: 10.1016/0049-3848(84)90386-4.
5
Modified oligonucleotides as alternatives to the synthesis of mixed probes for the screening of cDNA libraries.修饰寡核苷酸作为合成混合探针用于筛选cDNA文库的替代方法。
Proc Natl Acad Sci U S A. 1985 Nov;82(22):7510-4. doi: 10.1073/pnas.82.22.7510.