{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T20:51:38Z","timestamp":1767905498662,"version":"3.49.0"},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Objective\u2003Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.<\/jats:p><jats:p>\n          Methods\u2003The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software.<\/jats:p><jats:p>\n          Results\u2003The FIB:C and FIB:Ag of the proband were 1.28 and 2.20\u2009g\/L, respectively. Gene analysis revealed a heterozygous c.293C\u2009&gt;\u2009A (p.B\u03b2Ala68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen.<\/jats:p><jats:p>\n          Conclusion\u2003The B\u03b2Ala68Asp mutation in exon 2 of FGB may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.<\/jats:p>","DOI":"10.1055\/a-2116-8957","type":"journal-article","created":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T22:37:02Z","timestamp":1690670222000},"page":"426-431","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Fibrinogen Mutation p.B\u03b2Ala68Asp Causes an Inherited Dysfibrinogenemia"],"prefix":"10.1055","volume":"43","author":[{"given":"Kaiqi","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, People's Republic of China"},{"name":"Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Wenzhou, Zhejiang, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manlin","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, The First 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