Publications by authors named "Asma Abdulrazaq Al Faris"
Article Synopsis
- Von Willebrand factor (VWF) is essential for blood clotting, and mutations in this protein can cause von Willebrand disease (VWD), particularly the type 1 variant which is the most common bleeding disorder in humans.
- The study focused on investigating the genetic and clinical characteristics of VWD type 1 patients in eastern Saudi Arabia, specifically looking at exon 28 of the VWF gene and including both patients and their family members.
- While most genetic variants found were deemed benign, the research identified two pathogenic variants linked to more severe VWD symptoms in three patients, underscoring the importance of ongoing research into VWD genetics in this population.
