A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
(2016)
Journal Article
Simeoni, I., Stephens, J. C., Hu, F., Deevi, S. V. V., Megy, K., Bariana, T. K., …Turro, E. (2016). A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood, 127(23), 2791-2803. https://doi.org/10.1182/blood-2015-12-688267
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often un... Read More about A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.