Article
Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2022
Christopherson Pamela A, Haberichter Sandra L, Flood Veronica H, Perry Crystal L, Sadler Brooke E, Bellissimo Daniel B, Di Paola Jorge, Montgomery Robert R
Abstract excerpt
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 inheritance pattern found in type 3 VWD families. PATIENTS/METHODS: 62 index cases with a pre-existing diagnosis of...
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