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

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1

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

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

2

A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis.抗凝血酶III基因中的一种新型错义突变（Ser349→Pro）导致复发性静脉血栓形成。

Hum Genet. 1992 Mar;88(6):707-8. doi: 10.1007/BF02265306.

3

A novel nonsense mutation in the antithrombin III gene (Cys-4-->stop) causing recurrent venous thrombosis.抗凝血酶III基因中的一种新型无义突变（Cys-4→终止密码子）导致复发性静脉血栓形成。

Blood Coagul Fibrinolysis. 1996 Jul;7(5):578-9. doi: 10.1097/00001721-199607000-00010.

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

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis.通过单链构象多态性分析筛查抗凝血酶III基因中导致复发性静脉血栓形成的突变。

Hum Mutat. 1993;2(4):324-6. doi: 10.1002/humu.1380020416.

6

Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia.一个患有1型遗传性抗凝血酶（AT）缺乏症并导致血栓形成倾向的荷兰家族中存在精氨酸197突变为终止密码子的无义突变。

Thromb Res. 1995 May 1;78(3):251-4. doi: 10.1016/0049-3848(95)90875-g.

7

[Hereditary abnormalities of antithrombin III in patients with recurrent thrombophlebitis].[复发性血栓性静脉炎患者抗凝血酶III的遗传性异常]

Med Arh. 1986;40(1-2):51-3.

8

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.抗凝血酶III（AT3）基因的新生剪接位点突变导致复发性静脉血栓形成：通过异位转录本分析证实外显子跳跃

Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9.

9

Familial functional antithrombin III deficiency.家族性功能性抗凝血酶III缺乏症。

Scand J Haematol. 1980 Feb;24(2):105-9. doi: 10.1111/j.1600-0609.1980.tb02352.x.

10

[Thrombosis patients with familial antithrombin-III deficiency treated with heparin and antithrombin].[用肝素和抗凝血酶治疗的家族性抗凝血酶III缺乏症血栓形成患者]

Ugeskr Laeger. 1981;143(34):2145-8.

本文引用的文献

1

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.

2

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.

3

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。