| 1 | AT3, SERPINC1
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| Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
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| Picard V, Chen JM, Tardy B, Aillaud MF, Boiteux-Vergnes C, Dreyfus M, Emmerich J, Lavenu-Bombled C, Nowak-Göttl U, Trillot N, Aiach M, Alhenc-Gelas M.
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| Hum Genet 127(1):45-53. Epub 2009 Sep 17.PMID: 19760264 2010
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| 2 | AT3, SERPINC1
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| Antithrombin III suppresses ADP-induced platelet granule secretion: inhibition of HSP27 phosphorylation.
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| Doi T, Adachi S, Takai S, Matsushima-Nishiwaki R, Kato H, Enomoto Y, Minamitani C, Otsuka T, Tokuda H, Akamatsu S, Iwama T, Kozawa O, Ogura S.
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| Arch Biochem Biophys 489(1-2):62-7. Epub 2009 Jul 23.PMID: 19631608 2009
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| 3 | AT3, SERPINC1
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| Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA).
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| Lee ST, Kim HJ, Kim DK, Schuit RJ, Kim SH.
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| J Thromb Haemost 6(4):701-3. Epub 2008 Jan 15. No abstract available. PMID: 18208532 2008
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| 4 | SERPINC1, AT3
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| Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.
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| Rossi E, Chiusolo P, Za T, Marietti S, Ciminello A, Leone G, De Stefano V.
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| Thromb Haemost 98(3):695-7. No abstract available. Erratum in: Thromb Haemost. 2007 Oct;98(4):915. 2007
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| 5 | AT3, SERPINC1
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| Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients.
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| Kurihara M, Watanabe K, Inoue S, Wada Y, Ono M, Wakiyama M, Iida H, Kinoshita S, Hamasaki N.
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| Thromb Res 115(5):351-8. 2005
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| 6 | AT3, SERPINC1
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| Renovascular hypertension due to antithrombin deficiency in childhood.
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| Miura K, Takahashi T, Takahashi I, Komatsu M, Tsuchida S, Mikami T, Suzuki T, Takahashi S, Takada G.
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| Pediatr Nephrol 19(11):1294-6. 2004
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| 7 | SERPINC1, AT3
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| Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis.
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| Corral J, Huntington JA, Gonz‡lez-Conejero R, Mushunje A, Navarro M, Marco P, Vicente V, Carrell RW.
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| J Thromb Haemost 2(6):931-9. 2004
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| 8 | AT3, F10, F5, PROC, PROS1
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| Genetic risk factors of venous thrombosis.
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| Franco RF, Reitsma PH.
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| Hum Genet 109(4):369-84. Review. 2001
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| 9 | SERPINC1, AT3
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| A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia.
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| Tarantino MD, et al.
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| Am J Hematol 60(2):126-9. 1999
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| 10 | SERPINC1, AT3
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| Antithrombin Morioka (Cys 95-Arg) : a novel missense mutation causing type I antithrombin deficiency.
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| Ozawa T, et al.
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| Thromb Haemost 77 : 403-407. 1997
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| 11 | APOA2, AT3, DEL1QM, F5TPH, SERPINC1
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| Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.
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| Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T.
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| Am J Med Genet 68(2):207-10. 1997
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| 12 | SERPINC1, AT3
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| Type I antithrombin deficiency : five novel mutations associated with thrombosis.
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| Daly M, et al.
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| Blood Coagul Fibrinolysis 7 : 139-143. 1996
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| 13 | SERPINC1, AT3
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| Molecular genetics of human antithrombin deficiency.
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| Perry DJ, et al.
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| Hum Mutat 7 : 7-22. 1996
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| 14 | SERPINC1, AT3
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| A novel nonsense mutation in the antithrombin III gene (Cys-4-stop) causing recurrent venous thrombosis.
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| Saleun S, et al.
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| Blood Coagul Fibrinolysis 7 : 578-579. 1996
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| 15 | SERPINC1, AT3
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| Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia.
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| Michiels JJ, et al.
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| Thromb Res 78 : 251-254. 1995
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| 16 | SERPINC1, AT3
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| Antithrombin-Gly 424 Arg : a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
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| Jochmans K, et al.
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| Blood 83 : 146-151. 1994
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| 17 | SERPINC1, AT3
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| Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.
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| Millar DS, et al.
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| Hum Genet 94 : 509-512. 1994
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| 18 | SERPINC1, AT3
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| Molecular basis of antithrombin type I deficiency : the first large in-frame deletion and two novel mutations in exon 6.
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| Emmerich J, et al.
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| Thromb Haemost 72 : 534-539. 1994
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| 19 | SERPINC1, AT3
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| Hereditary antithrombin deficiency : heterogeneity of the molecular basis and mortality in Dutch families.
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| Van Boven HH, et al.
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| Blood 84 : 4209-4213. 1994
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| 20 | SERPINC1, AT3
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| A novel missense mutation in the antithrombin III gene (Ser349-Pro) causing recurrent venous thrombosis.
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| Grundy CB, et al.
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| Hum Genet 88 : 707-708. 1992
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| 21 | SERPINC1, AT3
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| De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis : demonstration of exon skipping by ectopic transcript analysis.
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| Berg LP, et al.
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| Genomics 13 : 1359-1361. 1992
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| 22 | SERPINC1, AT3
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| A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis.
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| White D, et al.
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| Hum Genet 90 : 472-473. 1992
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| 23 | SERPINC1, AT3
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| Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.
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| Olds RJ, et al.
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| Br J Haematol 78 : 408-413. 1991
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| 24 | SERPINC1, AT3
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| Molecular basis for hereditary antithrombin III quantitative deficiencies : a stop codon in exon IIIa and a frameshift in exon VI.
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| Gandrille S, et al.
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| Br J Haematol 78 : 414-420. 1991
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| 25 | SERPINC1, AT3
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| A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.
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| Olds RJ, et al.
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| Blood 76 : 2182-2186. 1990
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| 26 | SERPINC1, AT3
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| Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency.
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| Bock SC, et al.
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| Blood 70 : 1273-1278. 1987
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| 27 | AT3
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| Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene.
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| Bock SC, Harris JF, Schwartz CE, Ward JH, Hershgold EJ, Skolnick MH.
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| Am J Hum Genet 37(1):32-41. 1985
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| 28 | SERPINC1, AT3
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| Linkage of antithrombin III deficiency to Duffy blood group.
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| Bishop DT, et al.
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| Am J Hum Genet 30 : 48A. 1978
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| 29 | SERPINC1, AT3
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| Inherited antithrombin deficiency causing thrombophilia.
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| Egeberg O.
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| Thromb Diath Haemorrh 13 : 516-530. 1965
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