{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:02:19Z","timestamp":1761058939309,"version":"3.40.4"},"reference-count":24,"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>Mild type 1 von Willebrand disease (VWD) is characterized by low to variable penetrance of bleeding, a high (increased) prevalence of blood group O, von Willebrand factor (VWF) values around and above 30% with normal ratios of VWF:ristocetin cofactor activity (RCo)\/VWF:antigen (Ag), VWF:collagen binding (CB)\/VWF:Ag and factor VIII (FVIII):coagulant activity (C)\/VWF:Ag. Within this group of patients, the combination of the C1584 mutation and blood group O is rather frequent. Patients with mild VWD type 1 present good\/normal responses of FVIII:C and VWF parameters to desmopressin (DDAVP). With the exclusion of dominant VWD type Vicenza, type 1\/2E, recessive 2N and dominant 2M, missense mutations in patients with mild VWD type 1 with normal multimers are mainly located in the regulatory sequence region, the D1\/D2 propeptide region, the D\u2032 VWF-FVIII binding site region and the D4, B1\u2013B3 and C1\u2013C2 domains but rarely in the D3, A1 or A2 domain. A new category of either dominant or recessive mild VWD type 1 due to mutations in the D4, B1\u2013B3 and C1\u2013C2 domains of the VWF gene consists of two groups: one group with mild VWD with normal VWF multimers and a second group with mild\/moderate VWD with smeary multimer pattern.<\/jats:p>","DOI":"10.1159\/000214847","type":"journal-article","created":{"date-parts":[[2009,6,5]],"date-time":"2009-06-05T19:04:37Z","timestamp":1244228677000},"page":"85-97","source":"Crossref","is-referenced-by-count":6,"title":["Laboratory Diagnosis and Molecular Basis of Mild von Willebrand Disease Type 1"],"prefix":"10.1159","volume":"121","author":[{"given":"Jan Jacques","family":"Michiels","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zwi","family":"Berneman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Gadisseur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"van der Planken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilfried","family":"Schroyens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huub H.D.M.","family":"van Vliet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,6,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1177%2F1076029606291401"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1177%2F1076029606293422"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1538-7836.2006.02146.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1055%2Fs-2002-27814"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2141.1999.01604.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2F0049-3848%2886%2990150-7"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2516.2001.00487.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2002-09-2892"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00206958"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1994.1241"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1053%2Fbeha.2001.0139"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2002-04-1168"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2007-11-122945"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1538-7836.2006.02070.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159%2F000214853"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159%2F000214854"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159%2F000214855"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2006-05-020784"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2006-05-021105."},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2516.2008.01757.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2002-12-3693"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2006-10-052845"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1538-7836.2008.02945.x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2006-04-015065"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/214847","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/214847","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T22:27:00Z","timestamp":1745447220000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000214847"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":24,"journal-issue":{"issue":"2-3","published-online":{"date-parts":[[2009,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000214847","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2009]]}}}