Publications by authors named "Sharon Xuehui Chen"
Article Synopsis
- The study evaluates the effectiveness of four diagnostic protocols for detecting alpha-1-antitrypsin deficiency across different Canadian laboratories from 2011 to 2018.
- Among the protocols, ON-CD had the highest detection rate for pathogenic variants, but also reported more undefined molecular variants and likely benign variants compared to the others.
- The research concludes that comprehensive detection strategies covering the entire SERPINA1 coding sequence are better at identifying both pathogenic and non-pathogenic variants.
