{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:44:08Z","timestamp":1761061448335,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by &lt;i&gt;F5&lt;\/i&gt; gene mutations. The objective of this study was to investigate the p.Phe218Ser and p.Gly304Glu variants found in 2 families with hereditary FV deficiency. The FV activity (FV:C) and FV antigen (FV:Ag) were measured by clotting and ELISA, respectively. The &lt;i&gt;F5&lt;\/i&gt; gene and sequence conservation were analyzed by direct sequencing and ClustalX-2.1-win, respectively. One proband carried a homozygous p.Phe218Ser (c.653T&amp;#x3e;C) mutation, with FV:C and FV:Ag decreased to 11 and 14%, respectively. The other proband carried a heterozygous p.Gly304Glu (c.911G&amp;#x3e;A) mutation, with FV:C and FV:Ag reduced to 55 and 62%, respectively. Phe218 and Gly304 were highly conserved in the homologous gene in 9 other species. We hypothesized that the p.Phe218Ser and p.Gly304Glu variants are deleterious and responsible for the reduction in FV:C and FV:Ag. <\/jats:p>","DOI":"10.1159\/000512363","type":"journal-article","created":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T21:00:40Z","timestamp":1626728440000},"page":"712-716","source":"Crossref","is-referenced-by-count":3,"title":["Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency"],"prefix":"10.1159","volume":"144","author":[{"given":"Rujiao","family":"Dong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoliang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhui","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingshan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,7,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00130a007"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0b013e3283424883"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.36.21158"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000363598"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.01077.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0000000000000048"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403072101"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1021\/bi00187a022"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1182\/blood.v71.3.539.bloodjournal713539"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.02671.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-008-0210-4"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/512363","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/512363","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:16:36Z","timestamp":1745424996000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000512363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":11,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,11,22]]},"published-print":{"date-parts":[[2021,11,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000512363","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2021]]}}}