Publications by authors named "Pam Grundy"
Br J Haematol
October 2006
Article Synopsis
- von Willebrand disease (VWD) caused by the R1205H mutation presents specific and consistent clinical and lab features, mainly affecting individuals diagnosed with moderate to severe type 1 VWD.
- Researchers investigated seven families with this mutation and found that heterozygosity for R1205H was the most common genetic defect leading to type 1 VWD at their center.
- A notable finding was that affected individuals often had a severe lab phenotype and a milder bleeding history than anticipated, alongside the absence of abnormal ultralarge high molecular weight multimers in their plasma, and the R1205H mutation likely arises independently, suggesting it doesn't stem from a single genetic source.
