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

Pamela A ChristophersonSandra L HaberichterVeronica H FloodCrystal L PerryBrooke E SadlerDaniel B BellissimoJorge Di PaolaRobert R Montgomerynull null

Published in: Journal of thrombosis and haemostasis : JTH (2022)

This report represents a large cohort of VWD families in the U.S. with extensive phenotypic and genotypic data. While co-dominant inheritance was seen in approximately 50% of families, this study highlights the complexity of VWF genetics due to the heterogeneity found in both VWF levels and bleeding tendencies amongst families with type 3 VWD.

Keyphrases

single cell
atrial fibrillation
electronic health record
gene expression
dna methylation
single molecule