{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:18:38Z","timestamp":1760908718604},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,5,18]],"date-time":"2011-05-18T00:00:00Z","timestamp":1305676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p><jats:bold>Summary.\u2002<\/jats:bold> Most mutations identified in 2A VWD patients are localized in the A2 domain, although missense substitutions have also been recognized in the A1 domain. We describe a novel heterozygous missense mutation in the A1 domain of VWF gene responsible for type 2A phenotype. Analysis of the complete exon 28 was carried out in a patient and his mother with life\u2010long histories of moderate to severe bleeding and laboratory data of type 2A VWD. The analysis of exon 28 of VWF gene showed a 3815\u2003G\u2192T transversion resulting in C1272F mutation. It is probably associated with a group I mechanism according to patients\u2019 clinical symptoms, and, in the case of the propositus, the lack of clinical response to treatment with desmopressin. The mutation was not found in 100 normal alleles. This substitution affected the normal S\u2013S bound between C1272 and C1458, which is involved in A1 loop structure, altering the normal multimerization and function of VWF. The VWFpp\/VWF:Ag ratio in the propositus and his mother was &gt;3, suggesting a shortened survival of VWF. We believe it is important to report the complete clinical phenotype corresponding to the new mutation to increase the knowledge in the clinical field.<\/jats:p>","DOI":"10.1111\/j.1365-2516.2011.02569.x","type":"journal-article","created":{"date-parts":[[2011,5,19]],"date-time":"2011-05-19T03:13:22Z","timestamp":1305774802000},"page":"112-116","source":"Crossref","is-referenced-by-count":9,"title":["C1272F: a novel type 2A von Willebrand\u2019s disease mutation in A1 domain; its clinical significance"],"prefix":"10.1111","volume":"18","author":[{"given":"A. I.","family":"WOODS","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"SANCHEZ\u2010LUCEROS","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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A.","family":"LAZZARI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,18]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01219.x"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10455"},{"key":"e_1_2_8_4_2","unstructured":"University of Sheffield: ISTH SSC VWF Database. Available at:http:\/\/www.vwf.group.shef.ac.uk. Accessed March 16 2010."},{"key":"e_1_2_8_5_2","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1055\/s-0038-1657568","article-title":"Gene defects in 150 unrelated French cases with type 2 von Willebrand\u2019s disease: from the patient to the gene. 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