{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T16:33:55Z","timestamp":1740155635514,"version":"3.37.3"},"reference-count":26,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>A 34-year-old Japanese woman was admitted to our hospital complaining of developing bilateral pedal edema. Imaging studies led to a diagnosis of Budd-Chiari syndrome combined with internal jugular vein thrombus. We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C&gt;A (Arg42Ser) substitution in the protein C gene (<jats:italic>PROC<\/jats:italic>) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.<\/jats:p>","DOI":"10.1155\/2013\/270419","type":"journal-article","created":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T02:59:24Z","timestamp":1382669964000},"page":"1-6","source":"Crossref","is-referenced-by-count":2,"title":["Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6923-9576","authenticated-orcid":true,"given":"Jun","family":"Muratsu","sequence":"first","affiliation":[{"name":"Department of Nephrology and Hypertension, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4781-4100","authenticated-orcid":true,"given":"Atsuyuki","family":"Morishima","sequence":"additional","affiliation":[{"name":"Department of 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