{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:58:50Z","timestamp":1777946330091,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2009,4,28]],"date-time":"2009-04-28T00:00:00Z","timestamp":1240876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2009,4,28]],"date-time":"2009-04-28T00:00:00Z","timestamp":1240876800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemostasis"],"abstract":"<jats:p>The clinical presentation of hereditary protein C deficiency is highly variable. Homozygosity and compound heterozygosity have been linked to severe thrombotic complications early in the life. Heterozygous patients have a moderate form of the disease with deep venous thrombosis during adulthood. In the French population, we found 53 different mutations in 90 families. The amount of the protein C produced by the mutant allele as well as the genetic status partly account for the variable clinical expression. Other gene may also be involved: Arg 506 to Gln factor V mutation shows a frequency of 10 to 20% in symptomatic protein C deficient patients. Some protein C gene mutations are associated with a non functional circulating protein; most of them are located in the GLA domain and in the serine protease domain. The biochemical characterization of a few of theses variants has shown the important role of some amino acids on the activation and the mechanism of action of protein C.<\/jats:p>","DOI":"10.1159\/000217280","type":"journal-article","created":{"date-parts":[[2009,4,29]],"date-time":"2009-04-29T10:05:34Z","timestamp":1240999534000},"page":"9-19","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Basis For Protein C Hereditary Deficiency"],"prefix":"10.1159","author":[{"given":"Martine","family":"Aiach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Gandrille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,4,28]]},"container-title":["Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/217280","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000217280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T16:46:41Z","timestamp":1777740401000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000217280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,28]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000217280","archive":["Portico"],"relation":{},"ISSN":["0301-0147","1423-0038"],"issn-type":[{"value":"0301-0147","type":"print"},{"value":"1423-0038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,28]]}}}