{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:30:17Z","timestamp":1790501417239,"version":"4.1.0"},"reference-count":23,"publisher":"S. Karger AG","issue":"2-3","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>A complete set of laboratory investigations, including bleeding time, PFA-100 closure time, factor VIII coagulant activity (FVIII:C), von Willebrand factor (VWF) ristocetin cofactor activity (RCo), collagen binding (CB) and antigen concentration (Ag), ristocetin-induced platelet aggregation (RIPA) and multimeric analysis of VWF in low and medium SDS-agarose resolution gels, is warranted to diagnose and classify all variants of von Willebrand disease (VWD). VWD type 2M and 2U are typically characterized by decreased RIPA and a poor response of VWF:RCo to desmopressin (DDAVP), but normal VWF:CB and good responses of VWF:CB, VWF:Ag and FVIII:C to DDAVP. VWF multimeric analysis in patients with VWD 2M and 2U show relative decreases in large VWF multimers with less resolved triplet structure of each of the multimeric bands in low-, medium- or high-resolution gels. VWD type 2M or 2U are caused by a loss-of-function mutation in the A1 domain. The laboratory manifestations and molecular defects in the A1 domain causing VWD type 2M and 2U are clearly distinct from all variants of type 1 VWD and also from all other variants [VWD type 2A, 2B, 2E (IIE) and 2C (IIC)].<\/jats:p>","DOI":"10.1159\/000214855","type":"journal-article","created":{"date-parts":[[2009,6,5]],"date-time":"2009-06-05T19:04:37Z","timestamp":1244228677000},"page":"145-153","source":"Crossref","is-referenced-by-count":16,"title":["Dominant von Willebrand Disease Type 2M and 2U Are Variable Expressions of One Distinct Disease Entity Caused by Loss-of-Function Mutations in the A1 Domain of the von Willebrand Factor Gene"],"prefix":"10.1159","volume":"121","author":[{"given":"Alain","family":"Gadisseur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"van der Planken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfried","family":"Schroyens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zwi","family":"Berneman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Jacques","family":"Michiels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2009,6,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1538-7836.2006.02146.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI112394"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1053%2Fbeha.2001.0134"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.seminhematol.2004.10.002"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1177%2F1076029606291401"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1177%2F1076029606293422"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1983.tb02165.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.2830430103"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1055%2Fs-2002-27814"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2141.2002.03199.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.20470"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8652%28199809%2959%3A1%3C57%3A%3AAID-AJH11%3E3.0.CO%3B2-Z"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1067%2Fmlc.2001.111252"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1538-7836.2007.02666.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1995.tb08383.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood.V97.4.952"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1055%2Fs-2006-949662"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2003-06-2072"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.89.20.9846"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.107355"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.lab.2004.08.002"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2006-05-020784"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2006-05-021105."}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/214855","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/214855","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T22:27:09Z","timestamp":1745447229000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000214855"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":23,"journal-issue":{"issue":"2-3","published-online":{"date-parts":[[2009,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000214855","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"value":"0001-5792","type":"print"},{"value":"1421-9662","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009]]}}}