{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T18:37:56Z","timestamp":1785350276718,"version":"3.55.0"},"reference-count":34,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T00:00:00Z","timestamp":1479859200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Appl Thromb Hemost"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p>Factor XIII deficiency (FXIIID) is an extremely rare autosomal recessive disorder that has the highest incidence in Iran. The FXIIID is primarily due to mutations in the FXIII-A gene, most of which are unique. In the current study, we report all identified mutations among Iranian patients. Among 483 patients, 366 (75.8%) were molecularly analyzed; 11 different mutations were observed. Of 11, 8 (72.7%) are missense, whereas the remaining 3 (27.3%) are deletion\/insertion. Among these patients, 347 (94.9%) had the unique mutation of c.562T&gt;C and 5 (1.4%) had the c.233G&gt;A mutation. c.1226G&gt;A, c.2111G&gt;A, and c.1142T&gt;A are also common, whereas other mutations, including 3 missense and 3 deletion\/insertion, were observed only in single patient. Although, in most cases, FXIII mutations are unique and restricted to a specific family, this differs in Iran where a considerable number of identified mutations, recurrently observed, appear to be due to the high rate of consanguinity.<\/jats:p>","DOI":"10.1177\/1076029616680473","type":"journal-article","created":{"date-parts":[[2016,11,22]],"date-time":"2016-11-22T21:12:30Z","timestamp":1479849150000},"page":"210-216","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":12,"title":["Molecular Basis of Congenital Factor XIII Deficiency in Iran"],"prefix":"10.1177","volume":"24","author":[{"given":"Akbar","family":"Dorgalaleh","sequence":"first","affiliation":[{"name":"Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahideh","family":"Assadollahi","sequence":"additional","affiliation":[{"name":"Student Research Committee, Kurdistan University of Medical Sciences, Sanandaj, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shadi","family":"Tabibian","sequence":"additional","affiliation":[{"name":"Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morteza","family":"Shamsizadeh","sequence":"additional","affiliation":[{"name":"School of Nursing and Midwifery, Shahroud University of Medical Sciences, Shahroud, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,11,23]]},"reference":[{"key":"bibr1-1076029616680473","doi-asserted-by":"crossref","unstructured":"Dorgalaleh A, Rashidpanah J. 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