Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program

Background Type 3 von Willebrand Disease (VWD) is a rare and severe form of VWD characterized by the absence of von Willebrand factor (VWF). Objectives As part of the Zimmerman Program, we sought to explore the molecular pathogenesis, correlate bleeding phenotype and severity, and determine the inhe...

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Veröffentlicht in:	Journal of thrombosis and haemostasis 2022-07, Vol.20 (7), p.1576-1588
Hauptverfasser:	Christopherson, Pamela A., Haberichter, Sandra L., Flood, Veronica H., Perry, Crystal L., Sadler, Brooke E., Bellissimo, Daniel B., Di Paola, Jorge, Montgomery, Robert R., Abshire, T, Weiler, H, Lillicrap, D, James, P, O’Donnell, J, Ng, C, Bennett, C, Sidonio, R, Manco‐Johnson, M, Journeycake, J, Zia, A, Lusher, J, Rajpurkar, M, Shapiro, A, Lentz, S, Gill, J, Leissinger, C, Ragni, M, Tarantino, M, Roberts, J, Hord, J, Strouse, J, Ma, A, Valentino, L, Boggio, L, Sharathkumar, A, Gruppo, R, Kerlin, B, Kulkarni, R, Green, D, Hoots, K, Brown, D, Mahoney, D, Mathias, L, Bedros, A, Diamond, C, Neff, A, DiMichele, D, Giardina, P, Cohen, A, Paidas, M, Werner, E, Matsunaga, A, Shafer, F, Konkle, B, Cuker, A, Kouides, P, Stein, D
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Bleeding Comparative Genomic Hybridization Computer applications Genetic analysis genotype‐phenotype association Hemorrhage - genetics Heredity Humans Hybridization inherited blood coagulation disorders Pathogenesis Phenotype Phenotypes type 3 VWD von Willebrand Disease, Type 3 - diagnosis von Willebrand Disease, Type 3 - genetics von Willebrand Diseases - complications von Willebrand Diseases - diagnosis von Willebrand Diseases - genetics Von Willebrand factor von Willebrand Factor - analysis von Willebrand Factor - genetics
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