A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis.

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作者信息

White D, Abraham G, Carter C, Kakkar V V, Cooper D N

机构信息

Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.

出版信息

Hum Genet. 1992 Dec;90(4):472-3. doi: 10.1007/BF00220482.

DOI:10.1007/BF00220482

PMID:1483709

Abstract

摘要

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A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis.

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本文引用的文献

Familial antithrombin III deficiency: its natural history, genetics, diagnosis and treatment.家族性抗凝血酶III缺乏症：其自然病史、遗传学、诊断与治疗。

Medicine (Baltimore). 1983 Jul;62(4):209-20.

The use of an automated analyzer in the evaluation of antithrombin III and heparin.自动分析仪在抗凝血酶III和肝素评估中的应用。

Semin Thromb Hemost. 1983 Oct;9(4):309-20.

Assignment of the human antithrombin III structural gene to chromosome 1q23-25.人类抗凝血酶III结构基因定位于1号染色体q23 - 25区。

Cytogenet Cell Genet. 1985;39(1):67-9. doi: 10.1159/000132105.

Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.抗凝血酶III犹他型：抑制剂反应位点附近高度保守区域中的脯氨酸407突变为亮氨酸

Biochemistry. 1988 Aug 9;27(16):6171-8. doi: 10.1021/bi00416a052.

Antithrombin III deficiency.抗凝血酶III缺乏症

Blood Rev. 1988 Dec;2(4):239-50. doi: 10.1016/0268-960x(88)90013-6.

cDNA cloning and expression in Escherichia coli of a plasminogen activator inhibitor from human placenta.人胎盘纤溶酶原激活物抑制剂的cDNA克隆及在大肠杆菌中的表达

J Biol Chem. 1987 Mar 15;262(8):3718-25.

Intron structure of the human antithrombin III gene differs from that of other members of the serine protease inhibitor superfamily.

J Biol Chem. 1985 Aug 15;260(17):9608-12.

The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis.

Thromb Haemost. 1988 Feb 25;59(1):18-22.

Crystal structure of ovalbumin as a model for the reactive centre of serpins.作为丝氨酸蛋白酶抑制剂反应中心模型的卵清蛋白晶体结构。

Nature. 1990 Sep 6;347(6288):99-102. doi: 10.1038/347099a0.

Recurrent deletion in the human antithrombin III gene.人类抗凝血酶III基因中的复发性缺失。

Blood. 1991 Aug 15;78(4):1027-32.

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