Patients and mutation analysis
In this study, the underlying patho-molecular mechanisms VWFpp variants
detected in six index patients (IPs) from Germany and Pakistan. The VWD
diagnosis and classification of the IPs were made based on bleeding
symptoms and standard coagulation tests, consistent with ISTH-SSC VWF
guidelines. The VWF analysis was before performed in Bonn
Haemophilia Center, and the result of the genetic analysis, as well as
coagulation tests, has been previously reported . DNA and protein
sequence numbering has been done based on the reference sequence: RefSeq
NM_000552.4 and NP_000543.2, respectively, and sequence variant
descriptions were verified by VariantValidator online tool
(https://variantvalidator.org/;
accessed on 20.09.2020). The investigated VWF variants have been
registered to the Leiden Open Variation Database (LOVD version 3.0;http://www.lovd.nl/3.0/home;
submission individuals IDs: 00311186‐ 00311190 as well as 00311192).