Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms
(2020)
Journal Article
Cartwright, A., Webster, S. J., de Jong, A., Dirven, R. J., Bloomer, L. D. S., Al-Buhairan, A. M., Budde, U., Halldén, C., Habart, D., Goudemand, J., Peake, I. R., Eikenboom, J. C. J., Goodeve, A. C., & Hampshire, D. J. (2020). Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms. Blood Advances, 4(13), 2979-2990. https://doi.org/10.1182/bloodadvances.2018027813
Copy number variation (CNV) is known to cause all von Willebrand disease (VWD) types, although the associated pathogenic mechanisms involved have not been extensively studied. Notably, in-frame CNV provides a unique opportunity to investigate how spe... Read More about Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.