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Items: 1 to 20 of 159

1.

A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency.

Jang MJ, Lee JG, Chong SY, Huh JY, Jang MA, Kim HJ, Oh D.

Blood Coagul Fibrinolysis. 2011 Dec;22(8):742-5. doi: 10.1097/MBC.0b013e32834a7e17.

PMID:
21885952
2.

A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.

Yoo JH, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J.

Ann Clin Lab Sci. 2011 Fall;41(1):89-92.

PMID:
21325262
3.

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.

PMID:
22234719
4.

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Ding Q, Wang M, Xu G, Ye X, Xi X, Yu T, Wang X, Wang H.

Thromb Res. 2013 Sep;132(3):367-73. doi: 10.1016/j.thromres.2013.07.013.

PMID:
23932013
5.

Antithrombin deficiency in Brazilian patients with venous thrombosis: molecular characterization of a single splice site mutation, an insertion and a de novo point mutation.

Arnaldi LA, Pretti FA, Zampieri JP, Ramos CF, Arruda VR, Annichino-Bizzacchi JM.

Thromb Res. 2001 Dec 15;104(6):397-403.

PMID:
11755949
6.

Antithrombin Krakow II (c.624+1 G > T): a novel mutation leading to type 1 antithrombin deficiency.

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

Blood Coagul Fibrinolysis. 2012 Jul;23(5):454-5. doi: 10.1097/MBC.0b013e32835361a7.

PMID:
22498983
7.

Antithrombin III deficiency in Indian patients with deep vein thrombosis: identification of first India based AT variants including a novel point mutation (T280A) that leads to aggregation.

Bhakuni T, Sharma A, Rashid Q, Kapil C, Saxena R, Mahapatra M, Jairajpuri MA.

PLoS One. 2015 Mar 26;10(3):e0121889. doi: 10.1371/journal.pone.0121889.

8.

One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.

Mizukami K, Nakabayashi T, Naitoh S, Takeda M, Tarumi T, Mizoguchi I, Ieko M, Koike T.

Am J Hematol. 2006 Oct;81(10):787-97.

9.

Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.

Luxembourg B, Pavlova A, Geisen C, Spannagl M, Bergmann F, Krause M, Alesci S, Seifried E, Lindhoff-Last E.

Thromb Haemost. 2014 Feb;111(2):249-57. doi: 10.1160/TH13-05-0402.

PMID:
24196373
10.

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.

Choi J, Kim HJ, Chang MH, Choi JR, Yoo JH.

Ann Clin Lab Sci. 2011 Fall;41(4):397-400.

PMID:
22166512
11.

Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient.

Fujimori Y, Okimatsu H, Kashiwagi T, Sanda N, Okumura K, Takagi A, Nagata K, Murate T, Uchida A, Node K, Saito H, Kojima T.

Intern Med. 2008;47(10):925-31.

12.

Molecular basis of antithrombin deficiency.

Luxembourg B, Delev D, Geisen C, Spannagl M, Krause M, Miesbach W, Heller C, Bergmann F, Schmeink U, Grossmann R, Lindhoff-Last E, Seifried E, Oldenburg J, Pavlova A.

Thromb Haemost. 2011 Apr;105(4):635-46. doi: 10.1160/TH10-08-0538.

PMID:
21264449
13.

Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation.

Deng H, Shen W, Gu Y, Ma X, Zhang J, Zhang L.

J Thromb Thrombolysis. 2012 Aug;34(2):244-50. doi: 10.1007/s11239-012-0733-7.

PMID:
22535529
14.

Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA).

Lee ST, Kim HJ, Kim DK, Schuit RJ, Kim SH.

J Thromb Haemost. 2008 Apr;6(4):701-3. doi: 10.1111/j.1538-7836.2008.02905.x. No abstract available.

15.

Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency.

Cieśla M, Wypasek E, Corral J, Alhenc-Gelas M, Undas A.

Blood Coagul Fibrinolysis. 2015 Jan;26(1):95-7. doi: 10.1097/MBC.0000000000000182.

PMID:
25083771
16.

Recurrent ischemic cerebrovascular events in a patient with type I antithrombin deficiency caused by 9788 G>A splice site mutation: a case report.

Szymańska M, Alhenc-Gelas M, Undas A.

Blood Coagul Fibrinolysis. 2013 Mar;24(2):213-5. doi: 10.1097/MBC.0b013e32835b2467.

PMID:
23358206
17.

Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.

Nagaizumi K, Inaba H, Amano K, Suzuki M, Arai M, Fukutake K.

Int J Hematol. 2003 Jul;78(1):79-83.

PMID:
12894857
18.

Molecular basis of type I antithrombin deficiency in two women with recurrent venous thromboembolism in the first trimester of pregnancy.

Xia Y, Lu QY, Lu YL, Dai J, Ding QL, Wang XF, Xi XD, Wang HL.

Blood Cells Mol Dis. 2012 Apr 15;48(4):254-9. doi: 10.1016/j.bcmd.2012.02.005.

PMID:
22424603
19.

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, Kokame K, Kimura R, Honda S, Kawasaki T, Suehisa E, Tsuji H, Madoiwa S, Sakata Y, Kojima T, Murata M, Ikeda Y.

Thromb Res. 2009 May;124(1):14-8. doi: 10.1016/j.thromres.2008.08.020.

PMID:
18954896
20.

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Picard V, Nowak-Göttl U, Biron-Andreani C, Fouassier M, Frere C, Goualt-Heilman M, de Maistre E, Regina S, Rugeri L, Ternisien C, Trichet C, Vergnes C, Aiach M, Alhenc-Gelas M.

Hum Mutat. 2006 Jun;27(6):600. Erratum in: Hum Mutat. 2006 Nov;27(11):1160.

PMID:
16705712
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