{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:12:59Z","timestamp":1747185179983,"version":"3.40.5"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,2,6]],"date-time":"2021-02-06T00:00:00Z","timestamp":1612569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>von Willebrand factor (VWF) is a multimeric plasma glycoprotein that plays an important role in haemostasis. von Willebrand disease (VWD) is an inherited heterogeneous bleeding disorder caused by either a quantitative or qualitative defect of VWF. Type 3 VWD, the most severe form of the disease, leads to complete quantitative VWF deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>The present study aims to investigate the molecular pathogenesis of type 3 VWD patients from Southern Brazil.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The <jats:italic>VWF<\/jats:italic> gene was sequenced in 26 cases clinically diagnosed with type 3 VWD by next\u2010generation sequencing using Ion Torrent PGM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 25 patients, we were able to identify both disease\u2010causing variants. We identified 72 different variants: 31 intronic and 41 exonic. Five novel variants were found: c.6976+5G&gt;T; c.6885_6886insC; c.3378C&gt;T (p.Cys1126); c.3346_3347insCCA; and c.2503G&gt;T (p.Glu835*). Variants p.Pro2063Ser and p.Arg324* co\u2010segregated in 17 patients, 15 of them in homozygosity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results may contribute to the discussion on whether the variant p.Pro2063Ser is pathogenic or not. Finally, the presence of a common haplotype in patients bearing these two variants suggests a founder effect for this variant in our region.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.14254","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T19:08:13Z","timestamp":1612811293000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variants p.Pro2063Ser and p.Arg324* co\u2010segregate in type 3 von Willebrand disease patients from Southern Brazil"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4022-6309","authenticated-orcid":false,"given":"Ana Paula","family":"Ornaghi","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica e Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular Instituto de Bioci\u00eancias Universidade Federal do Rio Grande do Sul Porto Alegre Rio Grande do Sul 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