Article
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Blood - 25 Jul 2013
Johnsen Jill M, Auer Paul L, Morrison Alanna C, Jiao Shuo, Wei Peng, Haessler Jeffrey, Fox Keolu, McGee Sean R, Smith Joshua D, Carlson Christopher S, Smith Nicholas, Boerwinkle Eric, Kooperberg Charles, Nickerson Deborah A, Rich Stephen S, Green David, Peters Ulrike, Cushman Mary, Reiner Alex P
Abstract excerpt
Several rare European von Willebrand disease missense variants of VWF (including p.Arg2185Gln and p.His817Gln) were recently reported to be common in apparently healthy African Americans (AAs). Using data from the NHLBI Exome Sequencing Project, we assessed the association of these and other VWF coding variants with von Willebrand factor (VWF) and factor VIII (FVIII) levels in 4468 AAs. Of 30 nonsynonymous VWF...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.