N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets. [electronic resource]
- European journal of haematology Nov 2008
- 384-90 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1600-0609
10.1111/j.1600-0609.2008.01123.x doi
Amino Acid Substitution Animals Anti-Bacterial Agents--pharmacology Binding Sites--genetics Blood Platelets--metabolism COS Cells Chlorocebus aethiops Collagen--metabolism Crotalid Venoms--pharmacology Factor VIII--genetics Family Female Heterozygote Humans Male Mutation, Missense Pedigree Platelet Adhesiveness--drug effects Platelet Aggregation--drug effects Platelet Glycoprotein GPIb-IX Complex--genetics Protein Binding--drug effects Protein Structure, Tertiary--genetics Ristocetin--pharmacology von Willebrand Diseases--genetics von Willebrand Factor--genetics