New insights into genotype and phenotype of VWD

摘要: Recent advances in VWD research have improved our understanding of the genotype and phenotype VWD. The VWF gene is highly polymorphic, with a large number sequence variations reported healthy individuals. This can lead to some difficulty when attempting discern genotype-phenotype correlations because may not represent disease. In type 1 VWD, mutations be found throughout gene, but likely pathogenic are only ∼2/3 patients. Sequence 2 located region corresponding defect protein each variant. 3 confined specific also include deletions that picked up using conventional sequencing techniques. Use genetic testing most helpful diagnosis which larger known, well characterized present demonstration one these help confirm diagnosis. Bleeding symptoms general more severe decreasing levels compared Prediction for an individual patient, however, still difficult, addition data will ascertaining correct