{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:11:08Z","timestamp":1777479068554,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2020J011253"],"award-info":[{"award-number":["2020J011253"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017686","name":"Fujian Provincial Health Technology Project","doi-asserted-by":"publisher","award":["2023CXA055"],"award-info":[{"award-number":["2023CXA055"]}],"id":[{"id":"10.13039\/501100017686","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Appl Thromb Hemost"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Hemophilia B (HB) is an inherited bleeding disorder caused by defects in the F\u2168 gene, leading to severe coagulation dysfunction. This study designed eight pairs of primers covering eight exons of the F\u2168 gene and used PCR and DNA sequencing to detect F\u2168 gene mutations in 31 HB patients. Sequencing results were compared with normal sequences using Chromas software on Blast to identify mutation sites. Findings revealed the CpG dinucleotide region as a mutation hotspot and the 192nd nucleotide (F\u2168192) as a dinucleotide polymorphism site in the Chinese population. Pathogenic mutations included point mutations, deletions, insertions, and mutations affecting amino acids or splicing sites. For cases with only polymorphic sites, further exon sequencing is needed. This study adds new mutation data to the global HB database, supports research on racial differences in F\u2168 gene mutations, and contributes to domestic HB statistics. The results aid in understanding the F\u2168 gene's role in coagulation, elucidating HB pathogenesis, and providing a basis for future gene therapy.<\/jats:p>","DOI":"10.1177\/10760296241275454","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T02:47:01Z","timestamp":1723517221000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Study on the Mutation of F\u2168 Gene in 31 Patients with Type B Hemophilia"],"prefix":"10.1177","volume":"30","author":[{"given":"Danjuan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Critical Care Medicine, the Affiliated Hospital of Putian University, Putian 351100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongjie","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Critical Care Medicine, the Affiliated Hospital of Putian University, Putian 351100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Critical Care Medicine, the Affiliated Hospital of Putian University, Putian 351100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingbing","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Critical Care Medicine, the Affiliated Hospital of Putian University, Putian 351100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8820-0960","authenticated-orcid":false,"given":"Junting","family":"Weng","sequence":"additional","affiliation":[{"name":"Department of Critical Care Medicine, the Affiliated Hospital of Putian University, Putian 351100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6064-6709","authenticated-orcid":false,"given":"Zhifang","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Clinical lab, Zhenhai Street Community Health Service Center, Licheng District, Putian, 351100, Fujian, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,8,12]]},"reference":[{"key":"bibr1-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1111\/hae.14661"},{"key":"bibr2-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1111\/hae.14665"},{"key":"bibr3-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-023-01868-7"},{"key":"bibr4-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1021\/bi00335a049"},{"key":"bibr5-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.14.4053"},{"key":"bibr6-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtha.2023.02.005"},{"key":"bibr7-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13681"},{"key":"bibr8-10760296241275454","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2020.00074"},{"key":"bibr9-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2006.485"},{"key":"bibr10-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2015.1.152"},{"key":"bibr11-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2022007094"},{"key":"bibr12-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022017871"},{"key":"bibr13-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1542\/pir.34.7.289"},{"key":"bibr14-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1017\/thg.2020.48"},{"key":"bibr15-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1186\/s12913-022-07626-x"},{"key":"bibr16-10760296241275454","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2023.1303787"},{"key":"bibr17-10760296241275454","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23052762"},{"key":"bibr18-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1186\/s43141-021-00165-8"},{"key":"bibr19-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-4-6-406"},{"key":"bibr20-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msi043"},{"key":"bibr21-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-015-0115-z"},{"key":"bibr22-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1649870"},{"key":"bibr23-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-06-026104"},{"key":"bibr24-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1046\/j.1538-7836.2003.00347.x"},{"key":"bibr25-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0261829"},{"key":"bibr26-10760296241275454","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2021.669004"},{"key":"bibr27-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1038\/s41422-024-00949-w"},{"key":"bibr28-10760296241275454","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:3<221::AID-HUMU6>3.0.CO;2-U"}],"container-title":["Clinical and Applied Thrombosis\/Hemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10760296241275454","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10760296241275454","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10760296241275454","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T14:04:45Z","timestamp":1777385085000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10760296241275454"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":28,"alternative-id":["10.1177\/10760296241275454"],"URL":"https:\/\/doi.org\/10.1177\/10760296241275454","relation":{},"ISSN":["1076-0296","1938-2723"],"issn-type":[{"value":"1076-0296","type":"print"},{"value":"1938-2723","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1]]},"article-number":"10760296241275454"}}