{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Flood VH"],"funding":["NHLBI NIH HHS"],"pagination":["2481-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4874228"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["127(20)"],"pubmed_abstract":["von Willebrand disease (VWD) is the most common inherited bleeding disorder, and type 1 VWD is the most common VWD variant. Despite its frequency, diagnosis of type 1 VWD remains the subject of debate. In order to study the spectrum of type 1 VWD in the United States, the Zimmerman Program enrolled 482 subjects with a previous diagnosis of type 1 VWD without stringent laboratory diagnostic criteria. von Willebrand factor (VWF) laboratory testing and full-length VWF gene sequencing was performed for all index cases and healthy control subjects in a central laboratory. Bleeding phenotype was characterized using the International Society on Thrombosis and Haemostasis bleeding assessment tool. At study entry, 64% of subjects had VWF antigen (VWF:Ag) or VWF ristocetin cofactor activity below th"],"journal":["Blood"],"pubmed_title":["Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States."],"pmcid":["PMC4874228"],"funding_grant_id":["R01 HL112614","K08 HL102260","P01 HL081588"],"pubmed_authors":["Hoots WK","Peake IR","Hoffmann RG","Shapiro AD","Manco-Johnson MJ","Flood VH","Udani RA","Christopherson PA","Leissinger C","Lentz SR","Lillicrap D","Montgomery KT","Abshire TC","Bellissimo DB","Friedman KD","Dasgupta M","James PD","Ragni MV","Boggio LN","Goodeve AC","Haberichter SL","Montgomery RR","Lusher JM","Gill JC","Gruppo RA"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.","description":"von Willebrand disease (VWD) is the most common inherited bleeding disorder, and type 1 VWD is the most common VWD variant. Despite its frequency, diagnosis of type 1 VWD remains the subject of debate. In order to study the spectrum of type 1 VWD in the United States, the Zimmerman Program enrolled 482 subjects with a previous diagnosis of type 1 VWD without stringent laboratory diagnostic criteria. von Willebrand factor (VWF) laboratory testing and full-length VWF gene sequencing was performed for all index cases and healthy control subjects in a central laboratory. Bleeding phenotype was characterized using the International Society on Thrombosis and Haemostasis bleeding assessment tool. At study entry, 64% of subjects had VWF antigen (VWF:Ag) or VWF ristocetin cofactor activity below th","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 May","modification":"2025-06-01T04:17:46.504Z","creation":"2019-06-06T15:50:11Z"},"accession":"S-EPMC4874228","cross_references":{"pubmed":["26862110"],"doi":["10.1182/blood-2015-10-673681"]}}