{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T04:03:30Z","timestamp":1773115410796,"version":"3.50.1"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2020.00184","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T05:25:26Z","timestamp":1583213126000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance"],"prefix":"10.3389","volume":"11","author":[{"given":"Yi","family":"Tang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenlin","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jieyuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujiao","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingyang","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong Wei","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaofen","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1007\/s00404-019-05224-7","article-title":"Hereditary thrombophilia genetic variants in recurrent pregnancy loss.","volume":"300","author":"Ahangari","year":"2019","journal-title":"Arch. Gynecol. Obstet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1093\/cvr\/cvu193","article-title":"Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium.","volume":"104","author":"Boczonadi","year":"2014","journal-title":"Cardiovasc. Res."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1161\/ATVBAHA.115.306914","article-title":"new prothrombin mutation (Arg596Trp, Prothrombin Padua 2) associated with venous thromboembolism.","volume":"36","author":"Bulato","year":"2016","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1111\/ejh.13296","article-title":"Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.","volume":"103","author":"Castaman","year":"2019","journal-title":"Eur. J. Haematol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.1056\/NEJMra1700365","article-title":"Thrombophilia testing and venous thrombosis.","volume":"377","author":"Connors","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1038\/nbt0297-146","article-title":"Rational engineering of activity and specificity in a serine protease.","volume":"15","author":"Dang","year":"1997","journal-title":"Nat. Biotechnol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1936","DOI":"10.1111\/jth.12367","article-title":"A novel prothrombin mutation in two families with prominent thrombophilia\u2013the first cases of antithrombin resistance in a Caucasian population.","volume":"11","author":"Djordjevic","year":"2013","journal-title":"J. Thromb. Haemost."},{"key":"B8","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1515\/cclm-2018-0578","article-title":"A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient.","volume":"57","author":"Fan","year":"2019","journal-title":"Clin. Chem. Lab Med."},{"key":"B9","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.gene.2018.01.055","article-title":"Whole exome sequencing identifies a novel mutation (c.333+2T>C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.","volume":"648","author":"Fan","year":"2018","journal-title":"Gene"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-38857-4","article-title":"Identification and characterization of a factor Va-binding site on human prothrombin fragment 2.","volume":"9","author":"Friedmann","year":"2019","journal-title":"Sci. Rep."},{"key":"B11","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1080\/00313020500058250","article-title":"The prevalence of inherited thrombophilias in a caucasian australian population.","volume":"37","author":"Gibson","year":"2005","journal-title":"Pathology"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1186\/s12872-019-1231-z","article-title":"Incidence and risk factors for recurrent cardiovascular disease in middle-eastern adults: a retrospective study.","volume":"19","author":"Govender","year":"2019","journal-title":"BMC Cardiovasc. Disord."},{"key":"B13","doi-asserted-by":"publisher","first-page":"e304","DOI":"10.1111\/hae.12180","article-title":"Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1\/2 prothrombin deficiency.","volume":"19","author":"Kuijper","year":"2013","journal-title":"Haemophilia"},{"key":"B14","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1177\/1358863X15575769","article-title":"Thrombophilia.","volume":"20","author":"Lim","year":"2015","journal-title":"Vasc Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1097\/MBC.0b013e3283365770","article-title":"A laboratory evaluation into the short activated partial thromboplastin time.","volume":"21","author":"Mina","year":"2010","journal-title":"Blood Coagul. Fibrinolysis"},{"key":"B16","doi-asserted-by":"publisher","first-page":"2390","DOI":"10.1056\/NEJMoa1201994","article-title":"Thrombosis from a prothrombin mutation conveying antithrombin resistance.","volume":"366","author":"Miyawaki","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"B17","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1111\/j.1600-0609.2011.01670.x","article-title":"A severe neonatal presentation of factor II deficiency.","volume":"87","author":"Pasmant","year":"2011","journal-title":"Eur. J. Haematol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1161\/CIRCULATIONAHA.111.023937","article-title":"Utility of absolute and relative changes in cardiac troponin concentrations in the early diagnosis of acute myocardial infarction.","volume":"124","author":"Reichlin","year":"2011","journal-title":"Circulation"},{"key":"B19","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1111\/j.1365-2141.2005.05920.x","article-title":"Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin.","volume":"132","author":"Rouy","year":"2006","journal-title":"Br. J. Haematol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1016\/j.bcmd.2012.11.008","article-title":"Molecular defect of \u2018Prothrombin Amrita\u2019: substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin.","volume":"50","author":"Sivasundar","year":"2013","journal-title":"Blood Cells Mol. Dis."},{"key":"B21","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1007\/s11239-016-1428-2","article-title":"The use of direct oral anticoagulants in inherited thrombophilia.","volume":"43","author":"Skelley","year":"2017","journal-title":"J. Thromb. Thrombolysis"},{"key":"B22","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1007\/s11239-015-1316-1","article-title":"Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.","volume":"41","author":"Stevens","year":"2016","journal-title":"J. Thromb. Thrombolysis"},{"key":"B23","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1055\/s-0037-1613344","article-title":"Rescue of prothrombin-deficiency by transgene expression in mice.","volume":"88","author":"Sun","year":"2002","journal-title":"Thromb. Haemost."},{"key":"B24","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.ejmg.2018.06.003","article-title":"A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin.","volume":"62","author":"Takenouchi","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"B25","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.thromres.2017.09.020","article-title":"In vitro exploration of latent prothrombin mutants conveying antithrombin resistance.","volume":"159","author":"Tamura","year":"2017","journal-title":"Thromb. Res."},{"key":"B26","doi-asserted-by":"publisher","first-page":"16449","DOI":"10.1021\/bi9616108","article-title":"Protein engineering thrombin for optimal specificity and potency of anticoagulant activity in vivo.","volume":"35","author":"Tsiang","year":"1996","journal-title":"Biochemistry"},{"key":"B27","doi-asserted-by":"publisher","first-page":"5710","DOI":"10.1016\/j.bmc.2007.06.008","article-title":"A novel thrombin binding aptamer containing a G-LNA residue.","volume":"15","author":"Virno","year":"2007","journal-title":"Bioorg. Med. Chem."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1227","DOI":"10.1056\/NEJMoa023153","article-title":"Evaluation of D-dimer in the diagnosis of suspected deep-vein thrombosis.","volume":"349","author":"Wells","year":"2003","journal-title":"N. Engl. J. Med."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.00184\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T05:25:28Z","timestamp":1583213128000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.00184\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,3]]},"references-count":28,"alternative-id":["10.3389\/fgene.2020.00184"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2020.00184","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,3]]},"article-number":"184"}}