Items for "type 2A VWF"

Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease

The CK domain of von Willebrand factor (VWF) is involved in the dimerization of the protein. We identified the homozygous substitution A2801D of the CK domain in two siblings...

Keywords: von Willebrand factor, von Willebrand disease, type 2A VWF, dimerization, CK domain