{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T21:35:39Z","timestamp":1726090539193},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":7315,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1986,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A variant of von Willebrant disease (vWD) has been identified in a 19\u2010year\u2010old woman with a severe bleeding syndrome. She had a very prolonged bleeding time (over 20 min), 24 U\/d1 factor VIII coagulant activity (F.VIII:C), 16 U\/dl von Willebrand factor antigen (vWF:Ag), no ristocetin cofactor activity, and an anodal mobility of vWF:Ag on crossed immunoelectrophoresis (CIE). vWF:Ag was markedly reduced in her platelet lysate. In plasma and platelets, SDS\u2010agarose electrophoresis consistently demonstrated the absence of large multimers, a relatively increased concentration of the fastest\u2010moving multimer, and gross abnormalities of the internal structure of each vWF multimeric unit. Five members from the maternal side of the family had a double vWF:Ag peak by CIE and a relative increase of the fastest\u2010moving vWF multimer by SDS\u2010agarose electrophoresis; no quantitative or qualitative vWF defects were found in the paternal side of the family. The pattern of the findings in the propositus and her family is similar to those of type IIC vWD. However, there are some unique characteristics suggesting phenotypic variability in this subtype, such as low level of platelet vWF:Ag and the absence of increase of vWF after DDAVP administration.<\/jats:p>","DOI":"10.1002\/ajh.2830220311","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T10:47:33Z","timestamp":1172054853000},"page":"301-311","source":"Crossref","is-referenced-by-count":21,"title":["Investigation of a case of subtype IIC von Willebrand disease: Characterization of the variability of this subtype"],"prefix":"10.1002","volume":"22","author":[{"given":"Claudine","family":"Mazurier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pier Mannuccio","family":"Mannucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Armelle","family":"Parquet\u2010Gernez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice","family":"Goudemand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V55.6.1056.1056"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109795"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V57.6.1140.1140"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1182\/blood.V63.6.1369.1369","article-title":"A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII\u2010related antigen (type II D)","volume":"63","author":"Kinoshita S","year":"1984","journal-title":"Blood"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110700"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1979.tb05856.x"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1983.00493.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1182\/blood.V62.5.1000.1000","article-title":"A variant of von Willebrand's disease characterized by recessive inheritance and missing triplet structure of von Willebrand factor multimers","volume":"62","author":"Mannucci PM","year":"1983","journal-title":"Blood"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0338-4535(82)80078-0"},{"key":"e_1_2_1_11_2","first-page":"205","article-title":"Nouvelle m\u00e9thode de diagnostic de l'h\u00e9mophilie. Dosage des facteurs antih\u00e9mophiliques A et B","volume":"24","author":"Soulier JP","year":"1953","journal-title":"Sang"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1981.tb02788.x"},{"key":"e_1_2_1_13_2","first-page":"18","article-title":"Dosage de l'antig\u00e8ne li\u00e9 au facteur VIII par la technique ELISA. Int\u00e9r\u011bt dans l'\u00e9tude de la maladie de Willebrand","volume":"25","author":"Mazurier C","year":"1977","journal-title":"Pathol Biol"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107465"},{"key":"e_1_2_1_15_2","first-page":"1431","article-title":"Etude de l'antig\u00e8ne li\u00e9 au facteur VIII (FVIIIR:Ag). Purification par chromatographie d'affinit\u00e9","volume":"288","author":"Mazurier C","year":"1979","journal-title":"C R Acad Sci Paris"},{"key":"e_1_2_1_16_2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1055\/s-0038-1661448","article-title":"Improved characterization of plasma von Willebrand factor heterogeneity when using 2.5% agarose gel electrophoresis","volume":"55","author":"Mazurier C","year":"1986","journal-title":"Thrombos Hemostas"},{"key":"e_1_2_1_17_2","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1182\/blood.V59.6.1272.1272","article-title":"Multimeric composition of factor VIII\/von Willebrand factor following administration of DDAVP: Implications for patho\u2010physiology and therapy of von Willebrand's disease subtypes","volume":"59","author":"Ruggeri ZM","year":"1982","journal-title":"Blood"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1977.tb00566.x"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1977.tb08812.x"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197310252891703"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197912133012402"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830220311","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830220311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:19:07Z","timestamp":1697894347000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830220311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,7]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,7]]}},"alternative-id":["10.1002\/ajh.2830220311"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830220311","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,7]]}}}