{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:48Z","timestamp":1786976808709,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,10,24]],"date-time":"2005-10-24T00:00:00Z","timestamp":1130112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Patients initially diagnosed with type 1 von Willebrand disease (VWD) have been reclassified as type 2 after a more exhaustive analysis in several studies. Our study's objectives were (1) to reanalyze patients that were previously diagnosed as type 1 to achieve a more accurate diagnosis and (2) to compare the von Willebrand factor (VWF) ristocetin cofactor assay (VWF:RCo) and the VWF collagen binding assay (VWF:CB) in order to evaluate the possibility of replacing the former assay with the latter in the diagnosis of VWD. Twenty\u2010one patients from two large unrelated families and 104 normal controls were studied. VWF:Ag, VWF:RCo, FVIII coagulant activity (FVIII:C), bleeding time (BT), PFA\n                    <jats:sup>100<\/jats:sup>\n                    , and multimeric analysis of VWF were tested. Genetic analysis by sequencing exon 28 on the VWF gene was also carried out. Patients presented lower levels of VWF:Ag and VWF:RCo, a dissociation between VWF:RCo\/VWF:Ag, and the presence of all sizes of multimers in plasma VWF. The results for VWF:CB varied depending on the type of collagen used. The genetic analysis showed that the mutation R1374C is responsible for type 2M VWD. A high frequency of the R1374C mutation is observed in northwestern Spain (Galicia). Some types of 2M VWD are misdiagnosed as type 1 VWD. The VWF:CB (with type I collagen) assay was unable to discriminate defective platelet binding of the R1374C VWF. This confirms that VWF:CB cannot substitute for VWF:RCo, and both should be tested when diagnosing VWD. Am. J. Hematol. 80:188\u2013196, 2005. \u00a9 2005 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajh.20470","type":"journal-article","created":{"date-parts":[[2005,10,24]],"date-time":"2005-10-24T11:47:17Z","timestamp":1130154437000},"page":"188-196","source":"Crossref","is-referenced-by-count":34,"title":["von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia)"],"prefix":"10.1002","volume":"80","author":[{"given":"Norma","family":"Penas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almudena","family":"P\u00e9rez\u2010Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge Horacio","family":"Torea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Lour\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Soledad","family":"Noya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Fernanda","family":"L\u00f3pez\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Batlle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,10,24]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"87","article-title":"Heredit\u00e4r pseudohemofili","volume":"68","author":"Von Willebrand EA.","year":"1926","journal-title":"Fin Laekaresaellsk Handl"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1992.tb00584.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1055\/s-0038-1642471","article-title":"A revised classification of von Willebrand disease. 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INSERM Network on Molecular Abnormalites in von Willebrand Disease","volume":"78","author":"Meyer D","year":"1997","journal-title":"Thromb Haemost"},{"key":"e_1_2_1_16_2","first-page":"510","article-title":"Mutations at position 513, 552, 611 and 695 in the A1 loop of von Willebrand factor induce a type 2A phenotype, usefulness of botrocetin to distinguish type 2A and 2M von Willebrand disease","author":"Ribba AS","year":"1999","journal-title":"Thromb Haemost"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1067\/mlc.2001.111252"},{"key":"e_1_2_1_18_2","first-page":"149a","article-title":"A novel von Willebrand factor Arg611Cys or VWF Columbia associated with a dominant von Willebrand disease variant","volume":"82","author":"Hakami N","year":"1993","journal-title":"Blood"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1613768"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03199.x"},{"key":"e_1_2_1_21_2","first-page":"94","article-title":"von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment","volume":"88","author":"Castaman G","year":"2003","journal-title":"Haematologica"},{"key":"e_1_2_1_22_2","first-page":"181","volume-title":"Gu\u00eda pr\u00e1ctica de coagulopat\u00edas cong\u00e9nitas","author":"Noya MS","year":"2001"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2516.2002.00622.x"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10455"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.20470","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.20470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T11:29:16Z","timestamp":1696678156000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.20470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,24]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["10.1002\/ajh.20470"],"URL":"https:\/\/doi.org\/10.1002\/ajh.20470","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,24]]}}}