First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene

This publication has 5 references indexed in Scilit:

• Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity
  British Journal of Haematology, 2003
• Conformational changes in the D′ domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment
  Blood, 2000
• Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
  Blood, 2000
• Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF [see comments]
  Blood, 1995
• A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor.
  Journal of Biological Chemistry, 1987