Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

Podobne zapisy

• Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD)
  od: Haberichter, Sandra L., i wsp.
  Wydane: (2008)
• VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease
  od: Eikenboom, Jeroen, i wsp.
  Wydane: (2013)
• von Willebrand Factor Variant p.Arg924Gln Marks an Allele Associated with Reduced von Willebrand Factor and Factor VIII Levels
  od: HICKSON, N., i wsp.
  Wydane: (2010)
• The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF
  od: Haberichter, Sandra L., i wsp.
  Wydane: (2010)
• Skin Testing, Graded Challenge and Desensitization to von Willebrand Factor (VWF) Products in Type III von Willebrand Disease (VWD)
  od: Platt, Craig D., i wsp.
  Wydane: (2016)