{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T03:21:56Z","timestamp":1784690516310,"version":"3.55.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","thrombosisresearch.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Thrombosis Research"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.thromres.2015.07.014","type":"journal-article","created":{"date-parts":[[2015,7,26]],"date-time":"2015-07-26T14:47:47Z","timestamp":1437922067000},"page":"682-686","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Severe, recessive type 1 is a discrete form of von Willebrand disease: the lesson learned from the c.1534-3C&gt;A von Willebrand factor mutation"],"prefix":"10.1016","volume":"136","author":[{"given":"A.","family":"Casonato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.G.","family":"Cattini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Barbon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Daidone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Pontara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.thromres.2015.07.014_bb0005","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1146\/annurev.biochem.67.1.395","article-title":"Biochemistry and genetics of von Willebrand factor","volume":"67","author":"Sadler","year":"1998","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.thromres.2015.07.014_bb0010","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1182\/blood.V70.4.895.895","article-title":"Von Willebrand factor and von Willebrand disease","volume":"70","author":"Ruggeri","year":"1987","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0015","doi-asserted-by":"crossref","first-page":"8443","DOI":"10.1016\/S0021-9258(18)47430-3","article-title":"A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor","volume":"262","author":"Foster","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.thromres.2015.07.014_bb0020","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1146\/annurev.med.56.082103.104713","article-title":"New concepts in von Willebrand disease","volume":"56","author":"Sadler","year":"2005","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.thromres.2015.07.014_bb0025","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1182\/blood-2006-05-021105","article-title":"The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study","volume":"109","author":"James","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0030","doi-asserted-by":"crossref","first-page":"881","DOI":"10.3324\/haematol.2010.036848","article-title":"An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease","volume":"96","author":"Daidone","year":"2011","journal-title":"Haematologica"},{"key":"10.1016\/j.thromres.2015.07.014_bb0035","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1111\/j.1538-7836.2004.00933.x","article-title":"Slippery criteria for von Willebrand disease","volume":"2","author":"Sadler","year":"2004","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0040","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1111\/j.1538-7836.2005.01245.x","article-title":"Provisional criteria for the diagnosis of VWD type 1; on behalf of the SSC Subcommittee on von Willebrand factor","volume":"3","author":"Sadler","year":"2005","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0045","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1111\/j.1538-7836.2006.02146.x","article-title":"Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand factor","volume":"4","author":"Sadler","year":"2006","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0050","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.blre.2010.03.003","article-title":"The genetic basis of von Willebrand disease","volume":"24","author":"Goodeve","year":"2010","journal-title":"Blood Rev."},{"key":"10.1016\/j.thromres.2015.07.014_bb0060","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1182\/blood-2006-05-021105","article-title":"The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study","volume":"109","author":"James","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0065","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1055\/s-0037-1615050","article-title":"Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin","volume":"79","author":"Eikenboom","year":"1998","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0070","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1160\/TH06-07-0417","article-title":"Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease","volume":"96","author":"Gallinaro","year":"2006","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0075","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.1182\/blood.V74.6.2028.2028","article-title":"A new congenital platelet abnormality characterized by spontaneous platelet aggregation, enhanced von Willebrand factor platelet interaction and the presence of all von Willebrand factor multimers in plasma","volume":"74","author":"Casonato","year":"1989","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0080","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1046\/j.1365-2141.2001.02597.x","article-title":"von Willebrand factor collagen binding activity in the diagnosis of von Willebrand disease: an alternative to the ristocetin co-factor activity?","volume":"112","author":"Casonato","year":"2001","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.thromres.2015.07.014_bb0085","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.trsl.2009.12.003","article-title":"Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and\/or survival: observations from a case series","volume":"155","author":"Casonato","year":"2010","journal-title":"Transl. Res."},{"key":"10.1016\/j.thromres.2015.07.014_bb0090","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1182\/blood-2006-05-020784","article-title":"Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand in the European study, molecular and clinical markers for the diagnosis and management of Type 1 von Willebrand disease (MCMDM-1VWD)","volume":"109","author":"Goodeve","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0095","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/j.1538-7836.2006.01823.x","article-title":"Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD","volume":"4","author":"Eikenboom","year":"2006","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0100","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.thromres.2006.10.017","article-title":"Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease","volume":"120","author":"Casonato","year":"2007","journal-title":"Thromb. Res."},{"key":"10.1016\/j.thromres.2015.07.014_bb0105","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1182\/blood.V99.1.180","article-title":"Reduced von Willebrand factor survival in type Vicenza von Willebrand disease","volume":"99","author":"Casonato","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0110","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1160\/TH06-11-0647","article-title":"Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain","volume":"97","author":"Casonato","year":"2007","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0115","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1160\/TH12-11-0808","article-title":"C2362F mutation gives rise to an ADAMTS13.resistant von Willebrand factor","volume":"109","author":"Casonato","year":"2013","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0120","doi-asserted-by":"crossref","first-page":"2619","DOI":"10.1111\/j.1538-7836.2005.01663.x","article-title":"The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study","volume":"3","author":"Rodeghiero","year":"2005","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2015.07.014_bb0125","doi-asserted-by":"crossref","first-page":"3998","DOI":"10.1182\/blood-2007-08-105940","article-title":"Evidence-based diagnosis of type 1 von Willebrand disease: a Bayes theorem approach","volume":"111","author":"Tosetto","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2015.07.014_bb0130","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/0140-6736(93)91070-3","article-title":"Recessive inheritance of von Willebrand's disease type I","volume":"341","author":"Eikenboom","year":"1993","journal-title":"Lancet"},{"key":"10.1016\/j.thromres.2015.07.014_bb0135","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1111\/j.1538-7836.2006.02070.x","article-title":"Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study","volume":"4","author":"Castaman","year":"2006","journal-title":"J. Thromb. Haemost."}],"container-title":["Thrombosis Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0049384815300669?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0049384815300669?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T10:48:34Z","timestamp":1620816514000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0049384815300669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S0049384815300669"],"URL":"https:\/\/doi.org\/10.1016\/j.thromres.2015.07.014","relation":{},"ISSN":["0049-3848"],"issn-type":[{"value":"0049-3848","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Severe, recessive type 1 is a discrete form of von Willebrand disease: the lesson learned from the c.1534-3C>A von Willebrand factor mutation","name":"articletitle","label":"Article Title"},{"value":"Thrombosis Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.thromres.2015.07.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}