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Items: 1 to 20 of 87

1.

Identification of a novel frameshift mutation causing a premature stop codon in a young Nigerian man with type I antithrombin deficiency.

Bulato C, Tognin G, Spiezia L, Fadin M, Gavasso S, Simioni P.

Thromb Res. 2013 May;131(5):463-5. doi: 10.1016/j.thromres.2013.01.032. Epub 2013 Feb 18. No abstract available.

PMID:
23427904
2.

A novel frameshift mutation leading to inherited type I antithrombin deficiency.

Mori S, Yamanouchi J, Okamoto K, Hato T, Yasukawa M.

Blood Coagul Fibrinolysis. 2017 Mar;28(2):189-192. doi: 10.1097/MBC.0000000000000555.

PMID:
26974330
3.

Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods.

Sekiya A, Morishita E, Karato M, Maruyama K, Shimogawara I, Omote M, Wakugawa Y, Shinohara M, Hayashi T, Kadohira Y, Asakura H, Nakao S, Ohtake S.

Int J Hematol. 2011 Feb;93(2):216-9. doi: 10.1007/s12185-010-0763-x. Epub 2011 Jan 18.

PMID:
21240680
4.

Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.

Castaldo G, Cerbone AM, Guida A, Tandurella I, Ingino R, Tufano A, Ceglia C, Di Minno MN, Ruocco AL, Di Minno G.

Thromb Haemost. 2012 Apr;107(4):673-80. doi: 10.1160/TH11-09-0671. Epub 2012 Mar 8.

PMID:
22398878
5.

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

Gandrille S, Vidaud D, Emmerich J, Clauser E, Sié P, Fiessinger JN, Alhenc-Gelas M, Priollet P, Aiach M.

Br J Haematol. 1991 Jul;78(3):414-20.

PMID:
1873224
6.

A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Finazzi G, Barbui T, Thein SL.

Blood. 1990 Dec 1;76(11):2182-6.

7.

Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow).

Celinska-Lowenhoff M, Iwaniec T, Alhenc-Gelas M, Musial J, Undas A.

Thromb Haemost. 2011 Aug;106(2):379-81. doi: 10.1160/TH11-02-0066. Epub 2011 Jun 9. No abstract available.

PMID:
21655678
8.

A novel antithrombin gene mutation: slippage and mispairing as a mechanism of genetic disease.

Fitches AC, May SJ, Olds RJ.

Pathology. 1996 Nov;28(4):339-42.

PMID:
9007953
9.

Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.

Picard V, Bura A, Emmerich J, Alhenc-Gelas M, Biron C, Houbouyan-Reveillard LL, Molho P, Labatide-Alanore A, Sié P, Toulon P, Verdy E, Aiach M.

Br J Haematol. 2000 Sep;110(3):731-4.

PMID:
10997988
10.

Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.

Emmerich J, Chadeuf G, Alhenc-Gelas M, Gouault-Heilman M, Toulon P, Fiessinger JN, Aiach M.

Thromb Haemost. 1994 Oct;72(4):534-9.

PMID:
7878627
11.

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Ireland H, Leone G, De Stefano V, Wiesel ML, Cazenave JP, Thein SL.

Br J Haematol. 1991 Jul;78(3):408-13.

PMID:
1873223
12.

A novel nonsense mutation in the antithrombin III gene (Cys-4-->stop) causing recurrent venous thrombosis.

Saleun S, De Moerloose P, Bura A, Aiach M, Emmerich J.

Blood Coagul Fibrinolysis. 1996 Jul;7(5):578-9.

PMID:
8874869
13.

Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation.

Martínez-Martínez I, Ordóñez A, Navarro-Fernández J, Pérez-Lara A, Gutiérrez-Gallego R, Giraldo R, Martínez C, Llop E, Vicente V, Corral J.

Haematologica. 2010 Aug;95(8):1358-65. doi: 10.3324/haematol.2009.015487. Epub 2010 Apr 30.

14.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
15.

[A novel mutation in antithrombin gene results in hereditary antithrombin deficiency].

Zhang FH, Ding QL, Wu JS, Zhou RF, Wang XF, Xu XC.

Zhonghua Xue Ye Xue Za Zhi. 2006 Sep;27(9):598-601. Chinese.

PMID:
17278425
16.

Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.

Vidaud D, Emmerich J, Sirieix ME, Sié P, Alhenc-Gelas M, Aiach M.

Blood. 1991 Nov 1;78(9):2305-9.

17.

Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency.

de la Morena-Barrio ME, Antón AI, Martínez-Martínez I, Padilla J, Miñano A, Navarro-Fernández J, Águila S, López MF, Fontcuberta J, Vicente V, Corral J.

Thromb Haemost. 2012 Mar;107(3):430-7. doi: 10.1160/TH11-10-0701. Epub 2012 Jan 11.

PMID:
22234719
18.

[Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study].

Ye X, Feng Y, Jin PP, Zhou XH, Ding QL, Wang XF.

Zhonghua Xue Ye Xue Za Zhi. 2007 Sep;28(9):587-9. Chinese.

PMID:
18246812
19.

Two new nonsense mutations in type Ia antithrombin III deficiency at Leu 140 and Arg 197.

Tomonari A, Iwahana H, Yoshimoto K, Shigekiyo T, Saito S, Itakura M.

Thromb Haemost. 1992 Oct 5;68(4):455-9.

PMID:
1360174
20.

Antithrombin gene mutation 5356-5364*delCTT with type I deficiency and early-onset thrombophilia and a brief review of the antithrombin alpha-helix D molecular pathology.

Steiner M, Steiner B, Rolfs A, Wangnick M, Burstein C, Freund M, Schuff-Werner P.

Ann Hematol. 2005 Jan;84(1):56-8. Epub 2004 Aug 10. No abstract available. Erratum in: Ann Hematol. 2005 Jul;84(7):485-6.

PMID:
15309521

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