{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:30:42Z","timestamp":1790501442522,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,7,8]],"date-time":"2018-07-08T00:00:00Z","timestamp":1531008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/01\/COE\/08\/03"],"award-info":[{"award-number":["BT\/01\/COE\/08\/03"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Type 3 von Willebrand disease (VWD) is the rare and most severe form of VWD which results from a near\u2010complete deficiency of the von Willebrand factor (VWF). This study evaluates in detail the molecular pathology of type\u20103 VWD in India. One hundred and two patients from 90 families were evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>Phenotypic data, including bleeding scores (BS), were documented using structured questionnaires. Diagnosis of type 3 VWD was based on undetectable VWF antigen levels in the plasma. Genomic DNA from these patients was screened for mutations in VWF gene. Structural modeling and expression studies were carried out for missense mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Out of 102 patients, mutations could be identified in 91% (n\u00a0=\u00a093). Fifty\u2010five different gene variants were identified. Thirty\u2010four (61.8%) were novel. Mutations could be identified in both the alleles in 90 patients, while no causative mutation could be identified in 9 patients; twenty\u2010four (23.5%) patients had mutations clustered in the propeptide region of VWF. Interestingly, five mutations accounted for the defects in 37\/93 (39.8%) patients. Structural analysis and <jats:italic>in vitro<\/jats:italic> studies on missense mutations imply impaired processes associated with secretion of VWF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study is one of the largest series to define the molecular basis of type\u20103 VWD.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.13542","type":"journal-article","created":{"date-parts":[[2018,7,9]],"date-time":"2018-07-09T06:09:28Z","timestamp":1531116568000},"page":"930-940","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Type\u20103 von Willebrand disease in India\u2014Clinical spectrum and molecular profile"],"prefix":"10.1111","volume":"24","author":[{"given":"S.","family":"Elayaperumal","sequence":"first","affiliation":[{"name":"Department of Hematology Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. 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